ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter)

dbSNP: rs758539727
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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 RCV001913579 SCV002181636 pathogenic Atrial septal defect 7 2023-05-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NKX2-5 protein in which other variant(s) (p.Ala262Argfs*32) have been determined to be pathogenic (PMID: 22920929). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1409300). This premature translational stop signal has been observed in individual(s) with clinical features of NKX2-5-related conditions (PMID: 33082984). This sequence change creates a premature translational stop signal (p.Tyr248*) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acid(s) of the NKX2-5 protein.

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