ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1262C>T (p.Ser421Leu)

gnomAD frequency: 0.00007  dbSNP: rs200848972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289804 SCV000333876 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859560 SCV002152306 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 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 448 of the PLEC protein (p.Ser448Leu). This variant is present in population databases (rs200848972, gnomAD 0.1%). 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: 282413). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV000289804 SCV003815615 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649117 SCV005150091 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.1343C>T (p.S448L) alteration is located in exon 13 (coding exon 12) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 1343, causing the serine (S) at amino acid position 448 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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