ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) (rs200334999)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726361 SCV000344071 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000384298 SCV000595267 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000543444 SCV000652590 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 270 of the ISPD protein (p.Leu270Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs200334999, ExAC 0.2%) but has not been reported in the literature in individuals with a ISPD-related disease. ClinVar contains an entry for this variant (Variation ID: 289678). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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