ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.902C>T (p.Pro301Leu)

gnomAD frequency: 0.00003  dbSNP: rs753468111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512725 SCV000609310 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764777 SCV000895920 uncertain significance Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000799730 SCV000939406 uncertain significance Febrile seizures, familial, 11 2020-10-23 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CPA6-related disease. ClinVar contains an entry for this variant (Variation ID: 444757). This variant is present in population databases (rs753468111, ExAC 0.01%). This sequence change replaces proline with leucine at codon 301 of the CPA6 protein (p.Pro301Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Illumina Laboratory Services, Illumina RCV001163569 SCV001325621 uncertain significance Familial temporal lobe epilepsy 5 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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