ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) (rs144571463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413792 SCV000492217 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The Q1804K variant has been previously reported in one individual with HCM (Lopes et al., 2015); however, further clinical information and segregation data were not available. This substitution occurs at a position where amino acids with similar properties to Glutamine are tolerated across species, and Q1804K is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, Q1804K was observed in approximately 0.11% of alleles from individuals of African ancestry in the NHLBI Exome Sequencing Project, and approximately 0.28-0.69% of alleles from individuals of East Asian ancestry, including one homozygous individual, in the 1000 Genomes Project and Exome Aggregation Consortium, indicating it may be a rare benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000468128 SCV000557909 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621434 SCV000739997 likely benign Cardiovascular phenotype 2019-10-17 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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