ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.4427C>T (p.Pro1476Leu)

dbSNP: rs201971426
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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 RCV001064349 SCV001229246 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1476 of the KIAA1549 protein (p.Pro1476Leu). This variant is present in population databases (rs201971426, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KIAA1549-related conditions. ClinVar contains an entry for this variant (Variation ID: 858471). 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.
Fulgent Genetics, Fulgent Genetics RCV005036370 SCV005666099 uncertain significance Retinitis pigmentosa 86 2024-03-18 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813680 SCV005070122 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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