ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8461A>T (p.Ser2821Cys)

gnomAD frequency: 0.00001  dbSNP: rs1425678539
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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 RCV000687961 SCV000815556 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 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 2848 of the PLEC protein (p.Ser2848Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV002544789 SCV003557805 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.8542A>T (p.S2848C) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a A to T substitution at nucleotide position 8542, causing the serine (S) at amino acid position 2848 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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