ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)

gnomAD frequency: 0.00001  dbSNP: rs374248541
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592943 SCV000702899 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001069952 SCV001235152 uncertain significance Bardet-Biedl syndrome 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 217 of the TRIM32 protein (p.Asn217Ser). This variant is present in population databases (rs374248541, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of TRIM32-related conditions (PMID: 30823891). ClinVar contains an entry for this variant (Variation ID: 498075). 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.
Fulgent Genetics, Fulgent Genetics RCV002497253 SCV002790030 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-01-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000592943 SCV003823527 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945388 SCV004760898 uncertain significance TRIM32-related disorder 2024-01-12 no assertion criteria provided clinical testing The TRIM32 c.650A>G variant is predicted to result in the amino acid substitution p.Asn217Ser. This variant has been reported together with another variant in three siblings with muscular dystrophy. Their unaffected mother was also a carrier of this variant but did not carry the other variant (Servián-Morilla et al. 2019. PubMed ID: 30823891). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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