ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2462C>T (p.Thr821Ile)

gnomAD frequency: 0.00013  dbSNP: rs200686790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542763 SCV000650207 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 2023-07-20 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 471553). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs200686790, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 848 of the PLEC protein (p.Thr848Ile).
Ambry Genetics RCV002530077 SCV003714249 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.2543C>T (p.T848I) alteration is located in exon 22 (coding exon 21) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 2543, causing the threonine (T) at amino acid position 848 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133334 SCV003809098 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing

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