ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr)

gnomAD frequency: 0.00005  dbSNP: rs369654090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548273 SCV000659437 likely benign Adams-Oliver syndrome 5 2024-10-10 criteria provided, single submitter clinical testing
GeneDx RCV001764631 SCV001998881 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 477925; Landrum et al., 2016)
Ambry Genetics RCV002358626 SCV002620875 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-14 criteria provided, single submitter clinical testing The c.4027G>A (p.A1343T) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4027, causing the alanine (A) at amino acid position 1343 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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