ClinVar Miner

Submissions for variant NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)

dbSNP: rs2144062523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001837736 SCV002098355 uncertain significance RAB5C-related disorder 2021-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542814 SCV003636046 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.239A>G (p.Q80R) alteration is located in exon 4 (coding exon 2) of the RAB5C gene. This alteration results from a A to G substitution at nucleotide position 239, causing the glutamine (Q) at amino acid position 80 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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