ClinVar Miner

Submissions for variant NM_000257.3(MYH7):c.4911C>T (p.Ala1637=) (rs151113658)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000035939 SCV000513810 benign not specified 2015-04-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590139 SCV000696355 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing Variant summary: The MYH7 c.4911C>T (p.Ala1637Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121408 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic MYH7 variant (0.0010005). This variant has been reported in one patient with DCM, however, classified as likely benign (Pugh_2014). In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035939 SCV000059590 likely benign not specified 2012-03-20 criteria provided, single submitter clinical testing Ala1637Ala in exon 34 of MYH7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/3738 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs151113658). Ala1637Ala in exon 34 of MYH7 (rs151113658; allele frequency = 1/3738) **

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