ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5207G>A (p.Ser1736Asn)

gnomAD frequency: 0.00002  dbSNP: rs776401666
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Total submissions: 3
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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 RCV000613555 SCV000712444 likely benign not specified 2016-10-09 criteria provided, single submitter clinical testing p.Ser1736Asn in exon 37 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.3% (10/3348) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776401666). In addition, 8 mammals have an asparagine (Asn) at this posi tion despite high nearby amino acid conservation.
Invitae RCV001438535 SCV001641412 likely benign not provided 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV001438535 SCV002015818 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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