ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3481G>A (p.Val1161Met) (rs762230455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413094 SCV000492270 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing The V1161M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 9.0) and was also not observed in the Exome Aggregation Consortium (ExAC), indicating V1161M is not a common benign variant in large population cohorts. However, the V1161M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Although this substitution occurs at a position where amino acids with similar properties to valine (V) are tolerated across species, methionine (M) is not wild type in any species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Illumina Clinical Services Laboratory,Illumina RCV000357934 SCV000385663 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265564 SCV000385664 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318206 SCV000385665 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing

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