ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)

gnomAD frequency: 0.00002  dbSNP: rs752456288
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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 RCV000687538 SCV000815110 uncertain significance Hypertrophic cardiomyopathy 10 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 68 of the MYL2 protein (p.Glu68Gly). This variant is present in population databases (rs752456288, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567448). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002485609 SCV002786191 uncertain significance Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 2021-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026266 SCV003696275 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The c.203A>G (p.E68G) alteration is located in exon 4 (coding exon 4) of the MYL2 gene. This alteration results from a A to G substitution at nucleotide position 203, causing the glutamic acid (E) at amino acid position 68 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004004268 SCV004831351 uncertain significance Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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