ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu)

dbSNP: rs1755069507
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341511 SCV001535390 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2020-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC26A2-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 240 of the SLC26A2 protein (p.Gln240Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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