ClinVar Miner

Submissions for variant NM_004218.4(RAB11B):c.583G>A (p.Val195Met)

gnomAD frequency: 0.00001  dbSNP: rs1971454639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329826 SCV001521369 uncertain significance Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV005057278 SCV005705854 uncertain significance not provided 2024-09-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 195 of the RAB11B protein (p.Val195Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAB11B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028706). 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.

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