ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)

dbSNP: rs772639348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051984 SCV001216169 uncertain significance Smith-Lemli-Opitz syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 256 of the DHCR7 protein (p.Ala256Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs772639348, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001051984 SCV002093029 uncertain significance Smith-Lemli-Opitz syndrome 2020-03-24 no assertion criteria provided clinical testing

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