ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg)

gnomAD frequency: 0.00010  dbSNP: rs576369528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608122 SCV000723148 likely benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000946059 SCV001092148 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 2023-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584772 SCV005075384 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing PLEC: PM2, PM3:Supporting
Ambry Genetics RCV004955716 SCV005476081 uncertain significance Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing The c.3308A>G (p.Q1103R) alteration is located in exon 26 (coding exon 25) of the PLEC gene. This alteration results from a A to G substitution at nucleotide position 3308, causing the glutamine (Q) at amino acid position 1103 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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