ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg)

dbSNP: rs571410872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000366406 SCV000336943 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859600 SCV002306486 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2021-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 282 of the SLC26A2 protein (p.Gly282Arg). This variant is present in population databases (rs571410872, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 284353). 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 expected to disrupt SLC26A2 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.
Ambry Genetics RCV004021161 SCV004951335 uncertain significance Inborn genetic diseases 2024-02-17 criteria provided, single submitter clinical testing The c.844G>C (p.G282R) alteration is located in exon 3 (coding exon 2) of the SLC26A2 gene. This alteration results from a G to C substitution at nucleotide position 844, causing the glycine (G) at amino acid position 282 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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