ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met)

gnomAD frequency: 0.00002  dbSNP: rs749561286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288900 SCV001476306 benign not specified 2019-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069556 SCV002375398 benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035564 SCV004990248 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.815C>T (p.T272M) alteration is located in exon 6 (coding exon 6) of the NOTCH3 gene. This alteration results from a C to T substitution at nucleotide position 815, causing the threonine (T) at amino acid position 272 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002069556 SCV005396097 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34589931)
PreventionGenetics, part of Exact Sciences RCV004738227 SCV005349858 likely benign NOTCH3-related disorder 2024-09-11 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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