ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) (rs730880763)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158583 SCV000208518 likely pathogenic not provided 2012-11-06 criteria provided, single submitter clinical testing p.Leu1007Pro (CTG>CCG):c.3020 T>C in exon 24 of the MYH7 gene (NM_000257.2). The Leu1007Pro variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Leu1007Pro results in a semi-conservative amino acid substitution of one non-polar residue for another at a position that is conserved across species. In silico analysis predicts Leu1007Pro is probably damaging to the protein structure/function. Furthermore, the NHLBI ESP Exome Variant Server reports Leu1007Pro was not observed in over 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, while Leu1007Pro is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in DCM panel(s).
Ambry Genetics RCV000621750 SCV000736968 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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