ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg)

gnomAD frequency: 0.00002  dbSNP: rs763683589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462161 SCV000546210 uncertain significance Hypertrophic cardiomyopathy 2023-12-05 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 1520 of the MYH7 protein (p.Gly1520Arg). This variant is present in population databases (rs763683589, gnomAD 0.0009%). This missense change has been observed in individual(s) with Brugada syndrome (PMID: 26220970). ClinVar contains an entry for this variant (Variation ID: 407178). An algorithm developed specifically for the MYH7 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). 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.
Revvity Omics, Revvity RCV003488608 SCV004236705 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532127 SCV004359532 uncertain significance Cardiomyopathy 2021-07-27 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 1520 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251478 chromosomes 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.

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