ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp)

gnomAD frequency: 0.00005  dbSNP: rs567331060
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648479 SCV000770299 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 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1702 of the PLEC protein (p.Arg1702Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 538935). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV000999094 SCV001155532 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000999094 SCV002771813 uncertain significance not provided 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533354 SCV003748405 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.5104C>T (p.R1702W) 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 5104, causing the arginine (R) at amino acid position 1702 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000999094 SCV003817243 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000999094 SCV005196186 uncertain significance not provided criteria provided, single submitter not provided

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