ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6953C>T (p.Ala2318Val)

gnomAD frequency: 0.00004  dbSNP: rs377223579
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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 RCV000800484 SCV000940202 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 2024-12-09 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 2345 of the PLEC protein (p.Ala2345Val). This variant is present in population databases (rs377223579, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of PLEC-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 646240). 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.
Ambry Genetics RCV002534640 SCV003544978 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.7034C>T (p.A2345V) 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 7034, causing the alanine (A) at amino acid position 2345 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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