ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile)

gnomAD frequency: 0.00013  dbSNP: rs757127359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732291 SCV000860224 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027032 SCV003725244 likely benign not specified 2022-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003392571 SCV004110399 uncertain significance SLC27A5-related disorder 2023-07-19 criteria provided, single submitter clinical testing The SLC27A5 c.553G>A variant is predicted to result in the amino acid substitution p.Val185Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-59022770-C-T), which may be too common to be an undocumented primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV000732291 SCV005818571 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 185 of the SLC27A5 protein (p.Val185Ile). This variant is present in population databases (rs757127359, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SLC27A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 596447). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.