ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)

dbSNP: rs863225430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002515490 SCV003559066 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.257A>G (p.Y86C) alteration is located in exon 3 (coding exon 3) of the ARL13B gene. This alteration results from a A to G substitution at nucleotide position 257, causing the tyrosine (Y) at amino acid position 86 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV000202353 SCV000257351 pathogenic Joubert syndrome 8 2015-05-01 no assertion criteria provided literature only

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