ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser)

dbSNP: rs766811278
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336072 SCV001529366 uncertain significance Mitral valve prolapse, myxomatous 2 2018-07-11 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 RCV002546760 SCV002931747 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1937 of the DCHS1 protein (p.Ala1937Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DCHS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033607). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DCHS1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004035800 SCV004854684 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.5809G>T (p.A1937S) alteration is located in exon 14 (coding exon 13) of the DCHS1 gene. This alteration results from a G to T substitution at nucleotide position 5809, causing the alanine (A) at amino acid position 1937 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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