ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4132C>T (p.Pro1378Ser)

gnomAD frequency: 0.00001  dbSNP: rs752467139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313783 SCV001504289 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1378 of the CPLANE1 protein (p.Pro1378Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs752467139, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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