ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) (rs138307707)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490397 SCV000267502 uncertain significance Deafness, autosomal dominant 25 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000490397 SCV001271156 likely benign Deafness, autosomal dominant 25 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000490397 SCV001366086 uncertain significance Deafness, autosomal dominant 25 2020-04-22 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 9 of the SLC17A5 gene that results in the amino acid substitution of Serine for Alanine at codon 374 was detected. The observed variant c.1120G>T (p.Ala374Ser) has a minor allele frequency of 0.2% and 0.12% in the 1000 genomes and ExAC databases respectively. The observed variant has previously been reported in a patient affected with deafness (Miyagawa et al. 2013) and is reported as a variant of uncertain significance in the ClinVar database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
GeneDx RCV001711988 SCV001946120 benign not provided 2019-11-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23967202, 30245029)

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