ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3260G>A (p.Trp1087Ter)

gnomAD frequency: 0.00001  dbSNP: rs374670754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991405 SCV001142801 likely pathogenic Hypoglycemia; Abnormality of the liver 2019-06-20 criteria provided, single submitter clinical testing
Invitae RCV001858733 SCV002294631 uncertain significance Hypertrophic cardiomyopathy 2023-09-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 804425). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. This variant is present in population databases (rs374670754, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp1087*) in the MYOM1 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 MYOM1 cause disease. 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.

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