ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser)

gnomAD frequency: 0.00003  dbSNP: rs782532633
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176269 SCV000227896 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765992 SCV000897424 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001221617 SCV001393673 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 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 860 of the PLEC protein (p.Pro860Ser). 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 195655). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782532633, gnomAD 0.006%).
Ambry Genetics RCV002517694 SCV003657001 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.2578C>T (p.P860S) alteration is located in exon 22 (coding exon 21) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 2578, causing the proline (P) at amino acid position 860 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000176269 SCV004236176 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing

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