ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.809G>C (p.Ser270Thr)

gnomAD frequency: 0.00001  dbSNP: rs746650875
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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 RCV002000237 SCV002263673 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 270 of the RP1 protein (p.Ser270Thr). This variant is present in population databases (rs746650875, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1480193). 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.
Ambry Genetics RCV003250373 SCV003951201 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.809G>C (p.S270T) alteration is located in exon 4 (coding exon 3) of the RP1 gene. This alteration results from a G to C substitution at nucleotide position 809, causing the serine (S) at amino acid position 270 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816871 SCV005073250 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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