ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)

dbSNP: rs766793013
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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 RCV001370883 SCV001567427 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 970 of the CRB1 protein (p.Thr970Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs766793013, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Natera, Inc. RCV001831297 SCV002090194 uncertain significance Leber congenital amaurosis 2021-05-06 no assertion criteria provided clinical testing

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