ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13579T>C (p.Tyr4527His)

dbSNP: rs1286310928
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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 RCV000706916 SCV000835991 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 2018-05-22 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 disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces tyrosine with histidine at codon 4554 of the PLEC protein (p.Tyr4554His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Mayo Clinic Laboratories, Mayo Clinic RCV002261196 SCV002540971 uncertain significance not provided 2021-11-12 criteria provided, single submitter clinical testing

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