ClinVar Miner

Submissions for variant NM_000257.2(MYH7):c.4399C>G (p.Leu1467Val) (rs397516214)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770478 SCV000901921 uncertain significance Cardiomyopathy 2017-05-08 criteria provided, single submitter clinical testing
GeneDx RCV000158865 SCV000208800 likely pathogenic not provided 2011-10-18 criteria provided, single submitter clinical testing This missense change is denoted Leu1467Val (aka L1467V) at the protein level and c.4399 C>G at the cDNA level. The Leu1467Val variant in the MYH7 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Although Leu1467Val results in a conservative amino acid substitution of one non-polar amino acid with another, it occurs at a position that is highly conserved throughout evolution. In silico analysis predicts Leu1467Val to be damaging to the protein structure/function. In addition, mutations in nearby codons (Ala1454Thr, Lys1459Asn, Arg1475Cys) have been reported in association with HCM, further supporting the functional importance of this region of the protein. Furthermore, Leu1467Val was not observed in 696 control alleles from individuals of various ethnic backgrounds tested at GeneDx, indicating it is not a common benign polymorphism. With the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of Leu1467Val, although evidence suggests it is likely disease-causing. The variant is found in DCM,HCM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035909 SCV000059560 uncertain significance not specified 2014-01-17 no assertion criteria provided clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.

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