ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile)

gnomAD frequency: 0.00005  dbSNP: rs150811543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517988 SCV000614290 benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525057 SCV003599854 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.3575C>T (p.T1192I) alteration is located in exon 22 (coding exon 22) of the NOTCH3 gene. This alteration results from a C to T substitution at nucleotide position 3575, causing the threonine (T) at amino acid position 1192 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091188 SCV005771806 likely benign not provided 2024-05-22 criteria provided, single submitter clinical testing

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