ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1316G>A (p.Trp439Ter)

gnomAD frequency: 0.00001  dbSNP: rs375729555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472267 SCV000546160 uncertain significance Hypertrophic cardiomyopathy 14 2024-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp439*) 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 (rs375729555, gnomAD 0.01%). 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: 407154). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223846 SCV002501957 uncertain significance not provided 2022-02-09 criteria provided, single submitter clinical testing

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