ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser)

dbSNP: rs1555337299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544222 SCV000623691 uncertain significance Hypertrophic cardiomyopathy 2017-05-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 1062 of the MYH7 protein (p.Thr1062Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant has not been reported in the literature in individuals with a MYH7-related disease. In summary, this variant has uncertain impact on MYH7 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed specifically for the MYH7 gene (PMID: 21310275), suggest that this missense change is likely to be tolerated. However, this prediction has not been confirmed by published functional studies and their clinical significance is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002497039 SCV002812753 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 2021-08-24 criteria provided, single submitter clinical testing

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