ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)

gnomAD frequency: 0.00035  dbSNP: rs199912457
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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 RCV000809448 SCV000949599 uncertain significance Charcot-Marie-Tooth disease type 2R 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 712 of the TRIM2 protein (p.Pro712Ser). This variant is present in population databases (rs199912457, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TRIM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 653645). 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 tolerated. 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.
Ambry Genetics RCV004028667 SCV003874220 uncertain significance not specified 2023-03-01 criteria provided, single submitter clinical testing The c.2215C>T (p.P739S) alteration is located in exon 12 (coding exon 12) of the TRIM2 gene. This alteration results from a C to T substitution at nucleotide position 2215, causing the proline (P) at amino acid position 739 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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