ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val)

gnomAD frequency: 0.00001  dbSNP: rs371379877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329746 SCV001521268 uncertain significance Mitral valve prolapse, myxomatous 2 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003558808 SCV004278546 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DCHS1 protein function. ClinVar contains an entry for this variant (Variation ID: 1028650). This variant has not been reported in the literature in individuals affected with DCHS1-related conditions. This variant is present in population databases (rs371379877, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1262 of the DCHS1 protein (p.Glu1262Val). 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.

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