ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.2050G>A (p.Val684Ile)

gnomAD frequency: 0.00005  dbSNP: rs199895223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959571 SCV002250471 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 684 of the SLC26A3 protein (p.Val684Ile). This variant is present in population databases (rs199895223, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SLC26A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1466694). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002569264 SCV003542469 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.2050G>A (p.V684I) alteration is located in exon 18 (coding exon 17) of the SLC26A3 gene. This alteration results from a G to A substitution at nucleotide position 2050, causing the valine (V) at amino acid position 684 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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