ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro)

dbSNP: rs1595074765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001005009 SCV001164570 uncertain significance MYH7-related skeletal myopathy 2018-12-03 criteria provided, single submitter research The heterozygous p.Leu1484Pro variant in MYH7 was identified by our study in one individual with distal myopathy. The p.Leu1484Pro variant in MYH7 has not been previously reported in individuals with distal myopathy and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu1484Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).
Invitae RCV002551720 SCV003293041 uncertain significance Hypertrophic cardiomyopathy 2022-08-09 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: 814004). This missense change has been observed in individual(s) with clinical features of MYH7-related conditions (PMID: 32528171). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1484 of the MYH7 protein (p.Leu1484Pro).

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