ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2458C>T (p.Arg820Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051091 SCV005683706 uncertain significance Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 2024-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005063357 SCV005702188 uncertain significance not provided 2024-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 820 of the DCHS1 protein (p.Arg820Cys). This variant is present in population databases (rs532679903, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DCHS1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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