ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup)

dbSNP: rs1555727412
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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 RCV001644607 SCV000614296 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001644607 SCV003498569 uncertain significance not provided 2024-08-29 criteria provided, single submitter clinical testing This variant, c.4004_4006dup, results in the insertion of 1 amino acid(s) of the NOTCH3 protein (p.Ser1335dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NOTCH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 447844). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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