ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6830C>T (p.Ala2277Val)

gnomAD frequency: 0.00010  dbSNP: rs781888752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597337 SCV000701171 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220658 SCV001392663 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 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2304 of the PLEC protein (p.Ala2304Val). This variant is present in population databases (rs781888752, gnomAD 0.03%). 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: 497050). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV000597337 SCV004163499 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024700 SCV005005069 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.6911C>T (p.A2304V) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 6911, causing the alanine (A) at amino acid position 2304 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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