ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004585172 SCV005073894 uncertain significance Autosomal recessive nonsyndromic hearing loss 61 criteria provided, single submitter clinical testing The observed missense c.1539G>T(p.Lys513Asn) variant in SLC26A5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is present with an allele frequency of 0.009% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid change p.Lys513Asn in SLC26A5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 513 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Ambry Genetics RCV004674026 SCV005164750 uncertain significance Inborn genetic diseases 2024-05-06 criteria provided, single submitter clinical testing The c.1539G>T (p.K513N) alteration is located in exon 15 (coding exon 13) of the SLC26A5 gene. This alteration results from a G to T substitution at nucleotide position 1539, causing the lysine (K) at amino acid position 513 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.