ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3436T>A (p.Phe1146Ile)

gnomAD frequency: 0.00001  dbSNP: rs1554708450
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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 RCV000648472 SCV000770292 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 2022-10-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PLEC protein function. ClinVar contains an entry for this variant (Variation ID: 538930). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1173 of the PLEC protein (p.Phe1173Ile).
Revvity Omics, Revvity RCV003129963 SCV003809040 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing

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