ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2959G>A (p.Glu987Lys) (rs730880902)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158856 SCV000208791 likely pathogenic not provided 2011-12-02 criteria provided, single submitter clinical testing This variant is denoted p.Glu987Lys (E987K) at the protein level and c.2959 G>A at the cDNA level. The Glu987Lys variant in the MYH7 gene has not been reported previously as a disease-causing mutation or as a rare benign polymorphism, to our knowledge. Glu987Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is class conserved in mammals. Additionally, the NHLBI ESP Exome Variant Server reports Glu987Lys was not observed in at least 5,131 individuals from Caucasian and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no definitive disease-causing mutations have been reported in nearby codons suggesting this region of the protein may be tolerant of change. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine if the Glu987Lys variant is a disease-causing mutation or a rare benign polymorphism. The variant is found in HCM panel(s).

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