ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)

gnomAD frequency: 0.00003  dbSNP: rs764210725
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731226 SCV000859013 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507295 SCV002814266 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353010 SCV004077738 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.7342G>T (p.A2448S) alteration is located in exon 34 (coding exon 34) of the NOTCH2 gene. This alteration results from a G to T substitution at nucleotide position 7342, causing the alanine (A) at amino acid position 2448 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003633539 SCV004534969 likely benign Hajdu-Cheney syndrome 2023-02-14 criteria provided, single submitter clinical testing

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