ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) (rs201012865)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172051 SCV000051007 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156029 SCV000205742 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Tyr117Phe variant in MYH7 has been identified by our laboratory in 1 adult o f Ashkenazi Jewish ancestry with HCM. In addition, this variant has been identif ied in 1/1740 of European chromosomes by the ClinSeq Project (Ng 2013, dbSNP 201 012865). Tyrosine (Tyr) at position 117 is highly conserved in evolution and the change to phenylalanine (Phe) was predicted to be pathogenic using a computatio nal tool clinically validated by our laboratory. This tool's pathogenic predicti on is estimated to be correct 94% of the time (Jordan 2011). In summary, the cli nical significance of the Tyr117Phe variant is uncertain.
GeneDx RCV000172051 SCV000513795 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The Y117F variant has been reported in one individual from a cohort of patients undergoing whole exome sequencing, who were not selected for a personal history of cardiac arrhythmia or cardiomyopathy, or family history of sudden cardiac death (Ng et al., 2013). Follow-up cardiac evaluation was not reported for this individual. The Y117F variant is not observed with any significant frequency in large population cohorts (Lek et al., 2016; Exome Variant Server). The Y117F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, this substitution occurs at a position that is conserved across species. Lastly, in silico analysis predicts this variant is likely damaging to the protein structure/function.
Invitae RCV001078854 SCV000749806 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001113561 SCV001271345 benign Myopathy, distal, 1 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001113562 SCV001271346 uncertain significance Familial hypertrophic cardiomyopathy 1 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 RCV001113563 SCV001271347 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color RCV001189969 SCV001357370 likely benign Cardiomyopathy 2019-02-04 criteria provided, single submitter clinical testing

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