ClinVar Miner

Submissions for variant NM_004311.4(ARL3):c.308C>T (p.Thr103Met)

gnomAD frequency: 0.00001  dbSNP: rs370505468
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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 RCV002025756 SCV002288859 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 103 of the ARL3 protein (p.Thr103Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503851). 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. 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.
Dept Of Ophthalmology, Nagoya University RCV003888998 SCV004706952 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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