ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10469A>C (p.Gln3490Pro)

gnomAD frequency: 0.00001  dbSNP: rs371479882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050225 SCV001214324 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 2021-02-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PLEC-related conditions. This variant is present in population databases (rs371479882, ExAC 0.002%). This sequence change replaces glutamine with proline at codon 3517 of the PLEC protein (p.Gln3517Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.
Ambry Genetics RCV002553219 SCV003542867 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.10550A>C (p.Q3517P) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a A to C substitution at nucleotide position 10550, causing the glutamine (Q) at amino acid position 3517 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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