ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)

dbSNP: rs727505266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002476259 SCV002777254 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-08-12 criteria provided, single submitter clinical testing
Invitae RCV003748246 SCV004521796 uncertain significance Hypertrophic cardiomyopathy 2023-07-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 407 of the MYBPC3 protein (p.Gly407Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 487636). This missense change has been observed in individual(s) with Wolff-Parkinson-White syndrome (PMID: 32233023).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656221 SCV000678415 uncertain significance Wolff-Parkinson-White pattern 2017-07-14 no assertion criteria provided research This variant was identified in an individual with Wolff-Parkinson-White syndrome

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