ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1491dup (p.Val498fs)

dbSNP: rs886037637
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569383 SCV001793448 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32620954, 23354436, 27102868, 28474983, 33904513, 36268624)
Revvity Omics, Revvity RCV001569383 SCV003827962 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001569383 SCV005838398 pathogenic not provided 2024-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val498Cysfs*12) in the TCF12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCF12 are known to be pathogenic (PMID: 23354436, 32620954). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Kallman syndrome and TCF12-related craniosynostosis (PMID: 32620954, 33904513). ClinVar contains an entry for this variant (Variation ID: 55912). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000049325 SCV000081757 pathogenic TCF12-related craniosynostosis 2013-03-01 no assertion criteria provided literature only
OMIM RCV001818229 SCV002064294 pathogenic HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA 2013-03-01 no assertion criteria provided literature only

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