ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)

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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 RCV002963392 SCV003288761 uncertain significance not provided 2022-07-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PMPCB-related conditions. This variant is present in population databases (rs202239518, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 119 of the PMPCB protein (p.Leu119Met).
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003108139 SCV003762163 uncertain significance Multiple mitochondrial dysfunctions syndrome 6 2023-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004065079 SCV005009732 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.355C>A (p.L119M) alteration is located in exon 4 (coding exon 4) of the PMPCB gene. This alteration results from a C to A substitution at nucleotide position 355, causing the leucine (L) at amino acid position 119 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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