ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)

gnomAD frequency: 0.00001  dbSNP: rs766139231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947722 SCV002190088 uncertain significance not provided 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 40 of the NOTCH3 protein (p.Ala40Val). This variant is present in population databases (rs766139231, gnomAD 0.0009%). 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. 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 C15"). This variant has not been reported in the literature in individuals affected with NOTCH3-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002479405 SCV002786772 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-10-26 criteria provided, single submitter clinical testing

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