ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter)

dbSNP: rs186265521
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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 RCV000812551 SCV000952869 uncertain significance Hypertrophic cardiomyopathy 14 2024-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr288*) in the MYH6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH6 cause disease. This variant is present in population databases (rs186265521, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 656196). 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.
Baylor Genetics RCV001332139 SCV001524358 uncertain significance Atrial septal defect 3 2020-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001560587 SCV001783026 uncertain significance not provided 2024-08-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not an established mechanism of disease; This variant is associated with the following publications: (PMID: 36129056)
Fulgent Genetics, Fulgent Genetics RCV002478888 SCV002790325 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-09-13 criteria provided, single submitter clinical testing

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