ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693595 SCV000821470 uncertain significance Adams-Oliver syndrome 5 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 2 of the NOTCH1 protein (p.Pro2Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NOTCH1-related disease. 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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