ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)

gnomAD frequency: 0.00016  dbSNP: rs140832430
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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) RCV000405161 SCV000345909 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764961 SCV000896136 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002061146 SCV002386902 likely benign Hajdu-Cheney syndrome 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003422203 SCV004117183 uncertain significance NOTCH2-related disorder 2023-11-03 criteria provided, single submitter clinical testing The NOTCH2 c.6893G>A variant is predicted to result in the amino acid substitution p.Arg2298Gln. To our knowledge, this variant has not been reported in the literature. Of note, a different substitution at the same codon (p.Arg2298Trp) has been reported in an individual with congenital anomalies of the kidney and urinary tract (CAKUT), but the significance is unknown (van der Ven et al. 2018. PubMed ID: 30143558). This variant is reported in 0.022% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-120458452-C-T). In ClinVar, this variant is interpreted as uncertain/likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/291198/). This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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