ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)

gnomAD frequency: 0.00034  dbSNP: rs142462128
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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) RCV000728271 SCV000855824 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234445 SCV001407092 likely benign Hajdu-Cheney syndrome 2025-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639340 SCV005142249 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.4973C>T (p.T1658I) alteration is located in exon 27 (coding exon 27) of the NOTCH2 gene. This alteration results from a C to T substitution at nucleotide position 4973, causing the threonine (T) at amino acid position 1658 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003980361 SCV004787709 likely benign NOTCH2-related disorder 2022-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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