ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.605T>C (p.Phe202Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002358312 SCV002659721 uncertain significance Inborn genetic diseases 2022-05-22 criteria provided, single submitter clinical testing The p.F202S variant (also known as c.605T>C), located in coding exon 5 of the IGHMBP2 gene, results from a T to C substitution at nucleotide position 605. The phenylalanine at codon 202 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV004999711 SCV005620819 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is damaging.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239390 SCV005886559 uncertain significance not specified 2025-02-05 criteria provided, single submitter clinical testing Variant summary: IGHMBP2 c.605T>C (p.Phe202Ser) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251480 control chromosomes (gnomAD). 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.605T>C in individuals affected with Charcot-Marie-Tooth disease axonal type 2S and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1751325). Based on the evidence outlined above, the variant was classified as uncertain significance.

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