ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) (rs267606820)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046647 SCV001210559 pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 121 of the FLVCR1 protein (p.Asn121Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs267606820, ExAC 0.002%). This variant has been observed in individual(s) with posterior column ataxia retinitis pigmentosa (PMID: 21070897,28559085, 30444160). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 18418). This variant has been reported to affect FLVCR1 protein function (PMID: 22483575). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001933 SCV000022091 pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2012-01-01 no assertion criteria provided literature only

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.