ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His)

gnomAD frequency: 0.00009  dbSNP: rs150314895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278802 SCV002566998 uncertain significance Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101596 SCV003516050 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-06-29 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 496 of the SLC26A2 protein (p.Arg496His). This variant is present in population databases (rs150314895, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. 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 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.

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