ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr)

gnomAD frequency: 0.00001  dbSNP: rs745817995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655223 SCV000777153 benign Adams-Oliver syndrome 5 2024-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639307 SCV005142209 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-22 criteria provided, single submitter clinical testing The p.A208T variant (also known as c.622G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 622. The alanine at codon 208 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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