ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4484A>C (p.Glu1495Ala)

gnomAD frequency: 0.00001  dbSNP: rs781819832
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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 RCV001364748 SCV001560917 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 2020-10-15 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 C65"). This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is present in population databases (rs781819832, ExAC 0.002%). This sequence change replaces glutamic acid with alanine at codon 1522 of the PLEC protein (p.Glu1522Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine.
Ambry Genetics RCV004036921 SCV005006583 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.4565A>C (p.E1522A) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a A to C substitution at nucleotide position 4565, causing the glutamic acid (E) at amino acid position 1522 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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