ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6727C>A (p.Leu2243Ile)

gnomAD frequency: 0.00011  dbSNP: rs372627763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597771 SCV000708088 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001201704 SCV001372789 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 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2270 of the PLEC protein (p.Leu2270Ile). This variant is present in population databases (rs372627763, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 501639). 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 RCV003343935 SCV004067046 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.6808C>A (p.L2270I) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a C to A substitution at nucleotide position 6808, causing the leucine (L) at amino acid position 2270 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000597771 SCV004236121 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing

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