ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) (rs199768740)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454212 SCV000537996 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000893656 SCV001037609 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110212 SCV001267620 uncertain significance Fraser syndrome 3 2018-03-08 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
New York Genome Center RCV000893656 SCV001432899 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001110212 SCV001521390 likely pathogenic Fraser syndrome 3 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Reproductive Health Research and Development,BGI Genomics RCV000454212 SCV001142434 uncertain significance Abnormality of brain morphology 2020-01-06 no assertion criteria provided curation NM_021150.3:c.160G>A in the GRIP1 gene has an allele frequency of 0.006 in Ashkenazi Jewish subpopulation in the gnomAD database. Karaca et al. identified c.160G>A compound with c.1142G>T (phase unknown) in a neurologic patient. Two variants are novel with high frequency in Turkish Exomes (PMID: 26539891). We interpret it as a variant of uncertain significance. ACMG/AMP criteria applied: Null.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.