ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.10G>A (p.Ala4Thr)

gnomAD frequency: 0.00032  dbSNP: rs199806871
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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 RCV001060769 SCV001225480 uncertain significance not provided 2022-10-13 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 4 of the POC1B protein (p.Ala4Thr). This variant is present in population databases (rs199806871, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with POC1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 855489). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005005021 SCV005631590 uncertain significance Cone-rod dystrophy 20 2024-06-18 criteria provided, single submitter clinical testing

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