ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser)

gnomAD frequency: 0.00001  dbSNP: rs747022065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462592 SCV000548941 benign Adams-Oliver syndrome 5 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523316 SCV003742080 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.6949G>A (p.G2317S) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6949, causing the glycine (G) at amino acid position 2317 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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