ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) (rs730880910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158864 SCV000208799 uncertain significance not provided 2017-03-17 criteria provided, single submitter clinical testing The Arg1382Trp variant in the MYH7 gene has been previously published in association with HCM (Richard et al. 2003). Arg1382Trp was present in a single individual with HCM, and reportedly segregated with disease in this individual's family (Richard et al. 2003). It was also absent from 200 control alleles (Richard et al. 2003). The Arg1382Trp variant results in a non-conservative substitution of a hydrophilic Arginine with a hydrophobic Tryptophan at a residue that is highly conserved across species. In silico analysis predicts Arg1382Trp is pathogenic. variants in nearby codons (Thr1377Met, Ala1379Thr) have been reported in association with HCM, further supporting the functional importance of this region of the protein. Finally, the NHLBI ESP Exome Variant Server reports Arg1382Trp was not observed in approximately 5300 individuals from European and African American backgrounds. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV001110681 SCV001268148 uncertain significance Dilated cardiomyopathy 1S 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110682 SCV001268149 uncertain significance Myosin storage myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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