ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.114C>T (p.Phe38=)

gnomAD frequency: 0.00007  dbSNP: rs146210693
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215575 SCV000270455 likely benign not specified 2015-11-27 criteria provided, single submitter clinical testing p.Phe38Phe in exon 03 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/10400 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs146210693).
Eurofins Ntd Llc (ga) RCV000728432 SCV000856009 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182281 SCV001347679 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001472723 SCV001676860 likely benign Hypertrophic cardiomyopathy 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347827 SCV002618931 uncertain significance Cardiovascular phenotype 2021-04-06 criteria provided, single submitter clinical testing The c.114C>T variant (also known as p.F38F), located in coding exon 1 of the MYH7 gene, results from a C to T substitution at nucleotide position 114. This nucleotide substitution does not change the phenylalanine at codon 38. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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