ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser)

gnomAD frequency: 0.00001  dbSNP: rs776957107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549664 SCV000659417 likely benign Adams-Oliver syndrome 5 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278920 SCV003955923 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.3034G>A (p.G1012S) alteration is located in exon 19 (coding exon 19) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3034, causing the glycine (G) at amino acid position 1012 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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