ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4801G>A (p.Val1601Met)

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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 RCV003080223 SCV003481771 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 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1628 of the PLEC protein (p.Val1628Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 2166712). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV003134647 SCV003815507 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073174 SCV005005047 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.4882G>A (p.V1628M) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 4882, causing the valine (V) at amino acid position 1628 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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