ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1745T>C (p.Leu582Pro)

dbSNP: rs1827745982
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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 RCV001982632 SCV002226903 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 2021-01-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 609 of the PLEC protein (p.Leu609Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Revvity Omics, Revvity RCV003134288 SCV003808521 uncertain significance not provided 2019-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955957 SCV005471634 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.1826T>C (p.L609P) alteration is located in exon 16 (coding exon 15) of the PLEC gene. This alteration results from a T to C substitution at nucleotide position 1826, causing the leucine (L) at amino acid position 609 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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