ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr)

dbSNP: rs1589066307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811265 SCV000951523 uncertain significance Adams-Oliver syndrome 5 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 598 of the NOTCH1 protein (p.His598Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NOTCH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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