ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.772A>G (p.Thr258Ala)

gnomAD frequency: 0.00009  dbSNP: rs776266174
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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 RCV000820291 SCV000960998 uncertain significance Myopathy, proximal, and ophthalmoplegia 2025-01-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 258 of the MYH2 protein (p.Thr258Ala). This variant is present in population databases (rs776266174, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 662613). 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 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.
Revvity Omics, Revvity RCV000820291 SCV003809497 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307548 SCV004005841 uncertain significance Inborn genetic diseases 2023-04-06 criteria provided, single submitter clinical testing The c.772A>G (p.T258A) alteration is located in exon 9 (coding exon 7) of the MYH2 gene. This alteration results from a A to G substitution at nucleotide position 772, causing the threonine (T) at amino acid position 258 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004768703 SCV005379552 uncertain significance not provided 2023-11-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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