ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) (rs730880934)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158895 SCV000208830 likely pathogenic not provided 2014-10-17 criteria provided, single submitter clinical testing The c.3901_3903delCTG variant has not been published as a mutation or as a benign polymorphism to our knowledge. This variant causes an in-frame deletion that does not shift the reading frame or create a premature stop codon. However, the c.3901_3903delCTG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, many other in-frame deletions and insertions in the MYH7 gene have been reported in association with cardiomyopathy. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded.

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