ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.375dup (p.Glu126fs)

dbSNP: rs1561619801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707466 SCV000836565 pathogenic Atrial septal defect 7 2023-09-17 criteria provided, single submitter clinical testing 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.Leu202Argfs*49, p.Gln170*) have been determined to be pathogenic (PMID: 9651244, 10948187, 15689439, 21561848). 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: 583193). This premature translational stop signal has been observed in individual(s) with atrial septal defect (PMID: 32369864). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu126Argfs*27) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 199 amino acid(s) of the NKX2-5 protein.

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