ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) (rs150597240)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000346954 SCV000840520 uncertain significance Pendred syndrome 2018-09-28 reviewed by expert panel curation The allele frequency of the p.Thr764Met variant in SLC26A4 is 0.01% (3/24024) of African alleles and 0.007% (9/126592) of European (Non-Finnish) alleles by the Genome Aggregation Database (http://gnomad.broadinstitute.org), which is a low enough frequency to award PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_P). However, rarity/absence alone does not support a pathogenic classification. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2_P.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036482 SCV000060137 uncertain significance not specified 2012-07-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr764Met varia nt in SLC26A4 has not been reported in the literature nor previously identified by our laboratory. It has been identified in 0.01% (1/8600) of European America n chromosomes and 0.07% (3/4406) of African American chromosomes from a broad po pulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS /; dbSNP rs150597240), but this frequency is not high enough to rule out a patho genic role. Computational analyses (biochemical amino acid properties, conservat ion, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of this varian t cannot be determined without additional data.
Illumina Clinical Services Laboratory,Illumina RCV000289695 SCV000466109 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346954 SCV000466110 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764681 SCV000895812 uncertain significance Enlarged vestibular aqueduct; Pendred syndrome 2018-10-31 criteria provided, single submitter clinical testing

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