ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)

gnomAD frequency: 0.00021  dbSNP: rs201928401
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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) RCV000725397 SCV000336654 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000725397 SCV000714870 likely benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Invitae RCV001227994 SCV001400375 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 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 2229 of the PLEC protein (p.Lys2229Arg). This variant is present in population databases (rs201928401, gnomAD 0.04%). 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: 281264). 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 RCV002521870 SCV003685287 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.6686A>G (p.K2229R) 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 6686, causing the lysine (K) at amino acid position 2229 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725397 SCV003811155 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing

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