ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) (rs199588131)

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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, Partners HealthCare Personalized Medicine RCV000036464 SCV000060119 uncertain significance not specified 2010-09-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp661Glu varia nt in SLC26A4 has been observed in one Asian individual with hearing loss and re tinal disease. This individual did not have a variant on the second copy of the SLC26A4 gene. Computational analyses (biochemical amino acid properties, homolog y, PolyPhen, SIFT, AlignGVGD) do not provide strong support for or against patho genicity. In summary, the clinical significance of this variant cannot be determ ined at this time; however, given the lack of association between SLC26A4 varian ts and retinal disease, the variant is more likley benign.
Counsyl RCV000667285 SCV000791711 uncertain significance Pendred syndrome 2017-05-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000667285 SCV001321635 uncertain significance Pendred syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001159888 SCV001321636 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001510117 SCV001717059 benign not provided 2020-11-15 criteria provided, single submitter clinical testing
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine RCV000667285 SCV001438733 pathogenic Pendred syndrome 2020-05-12 no assertion criteria provided clinical testing
Natera, Inc. RCV000667285 SCV001459934 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing
GeneDx RCV001510117 SCV001792071 uncertain significance not provided 2020-08-26 no assertion criteria provided clinical testing Observed heterozygous with no second SLC26A4 variant in multiple unrelated patients (Yuan et al., 2012; Huang et al., 2018; Fu et al., 2016; Yao et al., 2013); Observed in a patient with hearing loss in published literature who harbored a homozygous variant in the OTOA gene (Iwasa et al., 2019); Observed in trans with a pathogenic variant in the unaffected parent of a patient with hearing loss in published literature; the affected child harbored two SLC26A4 variants and did not inherit D661E (Yu et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29605365, 21704276, 31095577, 30086623, 23638949, 26886089, 18274916, 16952406, 25761933, 30245029, 23185506, 30762455)

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