ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met)

gnomAD frequency: 0.00001  dbSNP: rs782099994
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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 RCV001349416 SCV001543761 uncertain significance not provided 2023-05-23 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: 208325). This missense change has been observed in individual(s) with Leber congenital amaurosis and/or other retinal degeneration (PMID: 19074801) (PMID: 19074801). This variant is present in population databases (rs782099994, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1194 of the RBP3 protein (p.Thr1194Met).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206965 SCV000244077 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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