ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3612C>T (p.Gly1204=)

dbSNP: rs786204378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037154 SCV001200553 likely benign Hypertrophic cardiomyopathy 2024-02-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532005 SCV004356838 likely benign Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017448 SCV004849155 uncertain significance Cardiovascular phenotype 2019-06-12 criteria provided, single submitter clinical testing The c.3612C>T (p.G1204G) 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 3612. This nucleotide substitution does not change the amino acid at codon 1204. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800308 SCV005423361 likely benign not specified 2024-10-06 criteria provided, single submitter clinical testing

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