ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)

gnomAD frequency: 0.00005  dbSNP: rs371868900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804334 SCV000944238 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534779 SCV003737658 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.382C>T (p.R128C) alteration is located in exon 3 (coding exon 3) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 382, causing the arginine (R) at amino acid position 128 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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