ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys)

gnomAD frequency: 0.00046  dbSNP: rs201105335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876629 SCV001019224 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127637 SCV001286973 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV001664520 SCV001879631 benign not specified 2020-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539228 SCV003655134 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.5992C>T (p.R1998C) alteration is located in exon 33 (coding exon 33) of the NOTCH3 gene. This alteration results from a C to T substitution at nucleotide position 5992, causing the arginine (R) at amino acid position 1998 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000876629 SCV005209575 likely benign not provided criteria provided, single submitter not provided

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