ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.629_632dup (p.Ile212fs)

dbSNP: rs1555225989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531546 SCV000659015 pathogenic Aortic valve disease 2 2017-03-11 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16917909, 16183809). This sequence change inserts 4 nucleotides in exon 6 of the TBX5 mRNA (c.629_632dupCGTT), causing a frameshift at codon 212. This creates a premature translational stop signal (p.Ile212Valfs*18) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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