ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)

gnomAD frequency: 0.00014  dbSNP: rs202032682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594392 SCV000707391 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024814 SCV003720519 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.334A>G (p.M112V) alteration is located in exon 2 (coding exon 1) of the GPBAR1 gene. This alteration results from a A to G substitution at nucleotide position 334, causing the methionine (M) at amino acid position 112 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003952991 SCV004770211 likely benign GPBAR1-related disorder 2023-12-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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