ClinVar Miner

Submissions for variant NM_001199563.2(BVES):c.263G>A (p.Arg88Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143840 SCV003830207 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2X 2019-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004604931 SCV005095648 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.263G>A (p.R88Q) alteration is located in exon 3 (coding exon 2) of the BVES gene. This alteration results from a G to A substitution at nucleotide position 263, causing the arginine (R) at amino acid position 88 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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