ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.1238T>C (p.Met413Thr)

gnomAD frequency: 0.00001  dbSNP: rs768581613
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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 RCV002007704 SCV002266766 uncertain significance not provided 2021-09-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with POC1B-related conditions. This variant is present in population databases (rs768581613, ExAC 0.009%). This sequence change replaces methionine with threonine at codon 413 of the POC1B protein (p.Met413Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine.
Fulgent Genetics, Fulgent Genetics RCV005008336 SCV005632085 uncertain significance Cone-rod dystrophy 20 2024-01-13 criteria provided, single submitter clinical testing

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