ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)

gnomAD frequency: 0.00007  dbSNP: rs375593618
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512847 SCV000609322 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing
Invitae RCV000648517 SCV000770337 likely benign 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 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000512847 SCV000970083 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524973 SCV003728870 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.13066C>T (p.R4356C) 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 13066, causing the arginine (R) at amino acid position 4356 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000512847 SCV003815612 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing

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