ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.408_410del (p.Lys136_Asp137delinsAsn)

dbSNP: rs1064797199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488024 SCV000575009 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV003586187 SCV004319659 uncertain significance Hypertrophic cardiomyopathy 2023-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 425070). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant, c.408_410del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the TPM1 protein (p.Lys136_Asp137delinsAsn).

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