ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2435T>C (p.Val812Ala)

gnomAD frequency: 0.00004  dbSNP: rs557539356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289140 SCV001476759 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001308975 SCV001498453 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 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 839 of the PLEC protein (p.Val839Ala). This variant is present in population databases (rs557539356, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 995208). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PLEC protein function with a negative predictive value of 80%. 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 RCV004035567 SCV005006557 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.2516T>C (p.V839A) alteration is located in exon 21 (coding exon 20) of the PLEC gene. This alteration results from a T to C substitution at nucleotide position 2516, causing the valine (V) at amino acid position 839 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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