ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.-2C>T

gnomAD frequency: 0.00001  dbSNP: rs730880938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158901 SCV000208836 likely benign not specified 2011-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001526093 SCV001736369 uncertain significance Cardiomyopathy 2020-12-08 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in the 5' untranslated region of the MYL2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/251440 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.
Ambry Genetics RCV002433707 SCV002748628 uncertain significance Cardiovascular phenotype 2020-12-14 criteria provided, single submitter clinical testing The c.-2C>T variant is located in the 5' untranslated region (5’ UTR) of the MYL2 gene. This variant results from a C to T substitution 2 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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