Submissions for variant NM_000257.4(MYH7):c.3666C>T (p.Ser1222=)

gnomAD frequency: 0.00003  dbSNP: rs397516191

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035862	SCV000059513	likely benign	not specified	2014-03-07	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
PreventionGenetics, part of Exact Sciences	RCV000035862	SCV000303224	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001360435	SCV001556351	likely benign	Hypertrophic cardiomyopathy	2023-12-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003531918	SCV004356833	likely benign	Cardiomyopathy	2023-12-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003531918	SCV004839587	likely benign	Cardiomyopathy	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004018775	SCV004943794	uncertain significance	Cardiovascular phenotype	2020-12-01	criteria provided, single submitter	clinical testing	The c.3666C>T (p.S1222S) alteration is located in exon 27 (coding exon 25) of the MYH7 gene. This alteration consists of a C to T substitution at nucleotide position 3666. This nucleotide substitution does not change the amino acid at codon 1222. However, this change occurs in the last nucleotide of Exon 27 (c.3337_3726) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.