ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6782A>G (p.Asn2261Ser)

gnomAD frequency: 0.00003  dbSNP: rs200272804
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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 RCV000699990 SCV000828724 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 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2288 of the PLEC protein (p.Asn2288Ser). This variant is present in population databases (rs200272804, gnomAD 0.006%). 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: 577284). 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 RCV004958029 SCV005471613 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.6863A>G (p.N2288S) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a A to G substitution at nucleotide position 6863, causing the asparagine (N) at amino acid position 2288 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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