ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) (rs147373451)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000263508 SCV000411015 likely benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455302 SCV000539943 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 5 individuals with CADASIL. Also identified in 3 individuals with ischemic strokes, but the frequency was not different in controls. No segregation data available. No new publications since 2013. MAF 0.4%, too high to be consistent for a pathogenic role in AD highly penetrant disease.
Athena Diagnostics Inc RCV000263508 SCV000677224 benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000865482 SCV001006459 benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Mendelics RCV000263508 SCV001141028 likely benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285044 SCV001471359 likely benign none provided 2019-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000865482 SCV001808854 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000865482 SCV001932793 likely benign not provided no assertion criteria provided clinical testing

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