ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4118G>A (p.Arg1373Gln)

gnomAD frequency: 0.00001  dbSNP: rs782128071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303416 SCV001492661 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2020-08-27 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is present in population databases (rs782128071, ExAC 0.04%). This sequence change replaces arginine with glutamine at codon 1400 of the PLEC protein (p.Arg1400Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV002539522 SCV003548389 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.4199G>A (p.R1400Q) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 4199, causing the arginine (R) at amino acid position 1400 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726482 SCV001963262 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726482 SCV001970122 uncertain significance not provided no assertion criteria provided clinical testing

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