ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)

gnomAD frequency: 0.00021  dbSNP: rs189137260
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516810 SCV000614612 benign not specified 2024-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871807 SCV001013530 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 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV002255424 SCV002526533 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002527511 SCV003697105 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.2221A>G (p.I741V) alteration is located in exon 19 (coding exon 18) of the PLEC gene. This alteration results from a A to G substitution at nucleotide position 2221, causing the isoleucine (I) at amino acid position 741 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV002255424 SCV004042353 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1

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