Submissions for variant NM_000257.4(MYH7):c.2923-7T>A

gnomAD frequency: 0.00001  dbSNP: rs746915271

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001184662	SCV001350698	uncertain significance	Cardiomyopathy	2019-10-29	criteria provided, single submitter	clinical testing	This variant causes a T>A nucleotide substitution at the -7 position of intron 23 of the MYH7 gene. Splice site prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/282858 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002559066	SCV003468490	uncertain significance	Hypertrophic cardiomyopathy	2022-07-10	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 923741). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is present in population databases (rs746915271, gnomAD 0.007%). This sequence change falls in intron 23 of the MYH7 gene. It does not directly change the encoded amino acid sequence of the MYH7 protein.