ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)

dbSNP: rs758699416
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513317 SCV000609289 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing RP1L1: PM2, BP4
Eurofins Ntd Llc (ga) RCV000513317 SCV000704171 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765984 SCV000897415 uncertain significance Occult macular dystrophy 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000513317 SCV001490531 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 150 of the RP1L1 protein (p.Thr150Ile). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RP1L1-related conditions. ClinVar contains an entry for this variant (Variation ID: 444739). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RP1L1 protein function with a negative predictive value of 80%. 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.
GeneDx RCV000513317 SCV001782568 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Identified in individuals with autosomal dominant occult macular dystrophy referred for genetic testing at GeneDx and in published literature; however, these individuals also harbored the R45W variant on the same allele (in cis) (Davidson et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32445700, 23281133)

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