ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4585_4586delinsAA (p.Ala1529Asn)

dbSNP: rs2046767691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174772 SCV001338094 uncertain significance not specified 2020-01-20 criteria provided, single submitter clinical testing Variant summary: NOTCH3 c.4585_4586delinsAA (p.Ala1529Asn) results in a non-conservative amino acid change located in the NOD domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 228124 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4585_4586delinsAA in individuals affected with NOTCH3-Related Disorders and no experimental evidence demonstrating an impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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