ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9946G>A (p.Glu3316Lys)

gnomAD frequency: 0.00001  dbSNP: rs373500873
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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 RCV000690535 SCV000818222 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 2022-08-24 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 569814). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs373500873, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3343 of the PLEC protein (p.Glu3343Lys).
Ambry Genetics RCV003278999 SCV003961834 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.10027G>A (p.E3343K) 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 10027, causing the glutamic acid (E) at amino acid position 3343 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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