ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3230A>T (p.Gln1077Leu) (rs377716628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658226 SCV000779997 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The Q1077L variant has not been published as pathogenic or been reported as benign to our knowledge. The Q1077L variant is observed in 31/24038 (0.13%) alleles from individuals of African ancestry in large population cohorts, indicating it may be a rare benign variant in this population (Lek et al., 2016). Nonetheless, the Q1077L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000472917 SCV000546137 likely benign Familial hypertrophic cardiomyopathy 14 2017-12-09 criteria provided, single submitter clinical testing

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