ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)

gnomAD frequency: 0.00013  dbSNP: rs148393324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276229 SCV000334076 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV002059111 SCV002442887 likely benign Hajdu-Cheney syndrome 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519113 SCV003540293 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.6362A>G (p.K2121R) alteration is located in exon 34 (coding exon 34) of the NOTCH2 gene. This alteration results from a A to G substitution at nucleotide position 6362, causing the lysine (K) at amino acid position 2121 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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