Submissions for variant NM_002471.4(MYH6):c.1142-4C>G

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002457213	SCV002616760	uncertain significance	Cardiovascular phenotype	2024-07-19	criteria provided, single submitter	clinical testing	The c.1142-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 11 in the MYH6 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003629211	SCV004458663	uncertain significance	Hypertrophic cardiomyopathy 14	2023-03-30	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the MYH6 gene. It does not directly change the encoded amino acid sequence of the MYH6 protein. This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1731574). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.