ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.652G>A (p.Ala218Thr)

gnomAD frequency: 0.00024  dbSNP: rs145691085
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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 RCV001232753 SCV001405321 uncertain significance not provided 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 218 of the RP1 protein (p.Ala218Thr). This variant is present in population databases (rs145691085, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 11527933; internal data). ClinVar contains an entry for this variant (Variation ID: 959402). 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813937 SCV005073335 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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