ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) (rs1595074765)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001005009 SCV001164570 uncertain significance Myopathy, distal, 1 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).

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