ClinVar Miner

Submissions for variant NM_001199563.2(BVES):c.515G>A (p.Arg172His)

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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 RCV003143836 SCV003830203 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2X 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164852 SCV003877857 uncertain significance Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.515G>A (p.R172H) alteration is located in exon 4 (coding exon 3) of the BVES gene. This alteration results from a G to A substitution at nucleotide position 515, causing the arginine (R) at amino acid position 172 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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