ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)

dbSNP: rs193921045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001657843 SCV001879566 pathogenic not provided 2021-04-23 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of NOTCH3 pathogenic mutations associated with CADASIL involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain (PMID: 32457593, 20301673).
Science for Life laboratory, Karolinska Institutet RCV000149001 SCV000088643 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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