ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)

gnomAD frequency: 0.00001  dbSNP: rs767716202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364151 SCV001560285 uncertain significance Smith-Lemli-Opitz syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 162 of the DHCR7 protein (p.Ala162Thr). This variant is present in population databases (rs767716202, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055477). 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 C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003898348 SCV004713220 uncertain significance DHCR7-related condition 2023-11-07 criteria provided, single submitter clinical testing The DHCR7 c.484G>A variant is predicted to result in the amino acid substitution p.Ala162Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-71152415-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001364151 SCV002093045 uncertain significance Smith-Lemli-Opitz syndrome 2019-09-27 no assertion criteria provided clinical testing

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