ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.118C>T (p.Arg40Trp)

gnomAD frequency: 0.00004  dbSNP: rs781877536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518779 SCV000614600 uncertain significance not specified 2017-02-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727782 SCV000855178 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000800479 SCV000940197 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 2023-10-22 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 40 of the PLEC protein (p.Arg40Trp). This variant is present in population databases (rs781877536, gnomAD 0.04%). 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: 448050). 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270050 SCV001448781 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q 2019-06-19 criteria provided, single submitter clinical testing

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