ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.4508C>T (p.Pro1503Leu)

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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 RCV003733548 SCV004524306 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1503 of the NEXMIF protein (p.Pro1503Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240881 SCV005883938 uncertain significance not specified 2024-12-02 criteria provided, single submitter clinical testing Variant summary: NEXMIF c.4508C>T (p.Pro1503Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 1197802 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4508C>T in individuals affected with Intellectual Developmental Disorder, X-Linked 98 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2897650). Based on the evidence outlined above, the variant was classified as uncertain significance.

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