A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

Table 2 Summary of DCHS1 Variants Detected in Patient

Chr	Gene	Position^a	dbSNP ID	SNP	Residue change	European population frequency (gnomAD database)	Type	Protein prediction CADD^b Score
11p15.4	DCHS1	6,662,255	rs145099391	G > A	p.P197L	8.89 × 10⁻⁴	Missense Exon 2	22.30
11p15.4	DCHS1	6,646,574	rs753548138	G > A	p.T2334 M	9.02 × 10⁻⁶	Missense Exon 19	23.30

^aRefSeq NM_003737.3
^bCADD scores are derived from several different functional annotation tools. A score of 20 means that a variant is amongst the top 1% of deleterious variants in the human genome. The higher the score, the more likely that variant is predicted to be deleterious to the protein [33]

ISSN: 1687-9856