ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.430G>A (p.Gly144Ser)

gnomAD frequency: 0.00001  dbSNP: rs1036184671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054827 SCV001219182 uncertain significance Hypertrophic cardiomyopathy 2022-03-18 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 850618). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30847666). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 144 of the MYH7 protein (p.Gly144Ser).
Clinical Genetics, Academic Medical Center RCV001699503 SCV001924073 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699503 SCV001928331 likely pathogenic not provided no assertion criteria provided clinical testing

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