ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.-139C>T (rs879914861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000403554 SCV000466071 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000299498 SCV000466072 uncertain significance Pendred syndrome 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605842 SCV000712457 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The c.-139C>T variant in SLC26A4 has been previously reported in 1 individual wi th hearing loss by our laboratory. It has also been identified in 0.03% (5/15424 ) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has b een reported in ClinVar (Variation ID 358492). This variant is located in the 5' UTR. It is unknown whether this variant impacts protein function. In summary, th e clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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