ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8317G>A (p.Ala2773Thr)

gnomAD frequency: 0.00001  dbSNP: rs200683827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687907 SCV000815499 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 2022-07-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs200683827, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2800 of the PLEC protein (p.Ala2800Thr). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 567739).
Revvity Omics, Revvity RCV003133518 SCV003809022 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303112 SCV003988367 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.8398G>A (p.A2800T) 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 8398, causing the alanine (A) at amino acid position 2800 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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