ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8248G>A (p.Val2750Ile)

gnomAD frequency: 0.00001  dbSNP: rs982482662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234825 SCV001407485 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 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2777 of the PLEC protein (p.Val2777Ile). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 961173). 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.
Revvity Omics, Revvity RCV003132316 SCV003817253 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033258 SCV005005090 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.8329G>A (p.V2777I) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 8329, causing the valine (V) at amino acid position 2777 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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