ClinVar Miner

Submissions for variant NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr)

gnomAD frequency: 0.00001  dbSNP: rs762108313
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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 RCV002004604 SCV002230260 uncertain significance not provided 2023-04-22 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. 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. ClinVar contains an entry for this variant (Variation ID: 1449441). This variant has not been reported in the literature in individuals affected with RIMS1-related conditions. This variant is present in population databases (rs762108313, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 675 of the RIMS1 protein (p.Ile675Thr).
Institute of Human Genetics, University of Leipzig Medical Center RCV002286434 SCV002576474 uncertain significance Cone-rod dystrophy 7 2022-08-08 criteria provided, single submitter clinical testing Criteria applied: PM1_SUP,PM2_SUP,PP3
Ambry Genetics RCV004043920 SCV003588343 uncertain significance not specified 2021-11-02 criteria provided, single submitter clinical testing The c.2024T>C (p.I675T) alteration is located in exon 10 (coding exon 10) of the RIMS1 gene. This alteration results from a T to C substitution at nucleotide position 2024, causing the isoleucine (I) at amino acid position 675 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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