ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)

gnomAD frequency: 0.00009  dbSNP: rs782026068
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725097 SCV000333994 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000725097 SCV000572999 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527679 SCV000650301 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 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1646 of the PLEC protein (p.Glu1646Lys). This variant is present in population databases (rs782026068, gnomAD 0.02%). 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: 282493). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PLEC protein function. 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 RCV002518856 SCV003700231 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The c.4936G>A (p.E1646K) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 4936, causing the glutamic acid (E) at amino acid position 1646 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725097 SCV003817901 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing

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