ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13283T>C (p.Val4428Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002512367 SCV002821911 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002574755 SCV002962969 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 2023-08-31 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 not expected to disrupt PLEC protein function. ClinVar contains an entry for this variant (Variation ID: 1879722). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782348004, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 4455 of the PLEC protein (p.Val4455Ala).
Ambry Genetics RCV002571621 SCV003756568 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.13364T>C (p.V4455A) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a T to C substitution at nucleotide position 13364, causing the valine (V) at amino acid position 4455 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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