ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9635T>G (p.Leu3212Arg)

dbSNP: rs893124902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003803865 SCV004591292 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 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3239 of the PLEC protein (p.Leu3239Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV005392702 SCV006051949 uncertain significance Inborn genetic diseases 2025-02-12 criteria provided, single submitter clinical testing The c.9716T>G (p.L3239R) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a T to G substitution at nucleotide position 9716, causing the leucine (L) at amino acid position 3239 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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