ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)

dbSNP: rs769396106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628941 SCV000749849 uncertain significance Hypertrophic cardiomyopathy 2022-03-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs769396106, gnomAD 0.006%). 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. This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 524993). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 742 of the MYH7 protein (p.Ala742Thr).
Color Diagnostics, LLC DBA Color Health RCV001525268 SCV001735321 uncertain significance Cardiomyopathy 2023-01-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 742 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a case of interuterine fetal death (PMID: 33782593). This variant has been identified in 1/251178 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.
Fulgent Genetics, Fulgent Genetics RCV002477374 SCV002790170 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129949 SCV003817743 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing

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