ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)

gnomAD frequency: 0.00001  dbSNP: rs761891361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224972 SCV001397203 uncertain significance Hypertrophic cardiomyopathy 2023-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 81 of the MYL3 protein (p.Arg81Trp). This variant is present in population databases (rs761891361, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MYL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 952795). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002497766 SCV002790464 uncertain significance Hypertrophic cardiomyopathy 8 2021-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380907 SCV004088731 uncertain significance Cardiovascular phenotype 2023-08-02 criteria provided, single submitter clinical testing The p.R81W variant (also known as c.241C>T), located in coding exon 3 of the MYL3 gene, results from a C to T substitution at nucleotide position 241. The arginine at codon 81 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003532905 SCV004357023 uncertain significance Cardiomyopathy 2023-10-26 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 81 of the MYL3 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYL3-related disorders in the literature. This variant has been identified in 7/251442 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.
All of Us Research Program, National Institutes of Health RCV001224972 SCV004843347 uncertain significance Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 81 of the MYL3 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYL3-related disorders in the literature. This variant has been identified in 7/251442 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.

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