ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) (rs1060502237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709944 SCV000840304 not provided Aortic valve disorder; Adams-Oliver syndrome 5 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000468389 SCV000548936 uncertain significance Adams-Oliver syndrome 5 2016-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2037 of the NOTCH1 protein (p.Ala2037Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NOTCH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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