ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)

gnomAD frequency: 0.00033  dbSNP: rs199637113
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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) RCV000730128 SCV000857843 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026987 SCV003759126 uncertain significance not specified 2022-07-12 criteria provided, single submitter clinical testing The c.562G>A (p.V188M) alteration is located in exon 2 (coding exon 1) of the GPBAR1 gene. This alteration results from a G to A substitution at nucleotide position 562, causing the valine (V) at amino acid position 188 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003947923 SCV004762168 likely benign GPBAR1-related disorder 2021-12-16 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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