ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)

dbSNP: rs370328209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004528865 SCV002034793 uncertain significance MYH7-related disorder 2021-10-27 criteria provided, single submitter clinical testing The MYH7 c.4985G>C (p.Arg1662Pro) variant is a missense variant. This variant was first reported by Lamont et al. (2014) in an Italian family with Laing distal myopathy, though it is unclear how many affected family members carried the variant. Yu et al. (2020) also identified the variant in a Chinese family with Laing distal myopathy, where the variant segregated with disease in the affected mother and daughter. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. Based on the available evidence, the p.Arg1662Pro variant is classified as a variant of uncertain significance for Laing distal myopathy.
All of Us Research Program, National Institutes of Health RCV003998153 SCV004837471 uncertain significance Cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces arginine with proline at codon 1662 of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a two unrelated families affected with Laing distal myopathy (PMID: 33298082 and 24664454). This variant has not been reported in individuals with MYH7-related cardiovascular disorders. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Neurogenetics Laboratory, Royal Perth Hospital RCV000132755 SCV000119906 pathogenic MYH7-related skeletal myopathy 2013-01-01 no assertion criteria provided clinical testing

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