ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)

gnomAD frequency: 0.00036  dbSNP: rs782278608
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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 RCV000516442 SCV000614649 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727425 SCV000708449 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060252 SCV002419481 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 2021-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727425 SCV003809085 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159661 SCV003882887 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.6347C>T (p.A2116V) 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 6347, causing the alanine (A) at amino acid position 2116 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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