ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10025C>T (p.Ser3342Leu)

gnomAD frequency: 0.00006  dbSNP: rs538702691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648484 SCV000770304 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 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 3369 of the PLEC protein (p.Ser3369Leu). This variant is present in population databases (rs538702691, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. 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: 538939). 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 tolerated. 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.
Revvity Omics, Revvity RCV003133449 SCV003809090 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649244 SCV005150044 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.10106C>T (p.S3369L) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 10106, causing the serine (S) at amino acid position 3369 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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