ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1927G>C (p.Asp643His)

dbSNP: rs375857355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594377 SCV000706561 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001063374 SCV001228216 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 2019-12-17 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. This variant has not been reported in the literature in individuals with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 500556). This variant is present in population databases (rs375857355, ExAC 0.002%). This sequence change replaces aspartic acid with histidine at codon 670 of the PLEC protein (p.Asp670His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
Revvity Omics, Revvity RCV000594377 SCV003817265 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing

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