ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3341G>A (p.Arg1114His) (rs730880773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158604 SCV000208539 likely pathogenic not provided 2012-02-27 criteria provided, single submitter clinical testing The Arg1114His variant has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Arg1114His results in a conservative amino acid substitution of a positively charged Arginine with a positively charged Histidine at a position that is conserved across species. In silico analysis predicts Arg1114His to be probably damaging to protein structure or function. A mutation in a nearby codon (Glu1116Lys) has been reported in associated with HCM, further supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Arg1114His was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, while Arg1114His is a good candidate for a disease-causing mutation, we cannot unequivocally determine the clinical significance of this variant with the clinical and molecular information available at this time. The variant is found in HCM panel(s).

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