ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)

gnomAD frequency: 0.00006  dbSNP: rs372116042
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611863 SCV000711954 uncertain significance not specified 2016-04-21 criteria provided, single submitter clinical testing The p.Arg43His variant in SLC26A4 has not been previously reported in individual s with cardiomyopathy but has been identified in 3/8246 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372116042). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ar g43His variant is uncertain.
Counsyl RCV000664751 SCV000788760 uncertain significance Pendred syndrome 2016-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785682 SCV002026991 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000664751 SCV002026992 uncertain significance Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506451 SCV002800186 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2021-09-22 criteria provided, single submitter clinical testing
Invitae RCV002529307 SCV003282116 uncertain significance not provided 2021-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 43 of the SLC26A4 protein (p.Arg43His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with deafness (PMID: 23555729). ClinVar contains an entry for this variant (Variation ID: 504923). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC26A4 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.
CeGaT Center for Human Genetics Tuebingen RCV002529307 SCV004010709 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664751 SCV002079960 uncertain significance Pendred syndrome 2020-03-05 no assertion criteria provided clinical testing

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