ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys) (rs730880898)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158844 SCV000208779 likely pathogenic not provided 2011-08-05 criteria provided, single submitter clinical testing This mutation is denoted p.Asn826Lys (N826K) at the protein level and c.2478 T>A at the cDNA level. The Asn826Lys variant has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. The Asn826Lys results in a non-conservative amino acid substitution of a neutral Asparagine residue with a positively charged Lysine residue at a position that is class conserved in evolution. In silico analysis predicts Asn826Lys to be damaging to the protein structure/function. Additionally, mutations in nearby codons (Gly823Glu, Val824Ile, Trp827Cys) have been reported in association with HCM, further supporting the functional importance of this region of the protein. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of Asn826Lys, although evidence suggests it is likely disease-causing. The variant is found in HCM panel(s).

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