ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.299+3399C>T

gnomAD frequency: 0.00011  dbSNP: rs368990025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665823 SCV000790002 likely benign Hurler syndrome 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000054777 SCV002133578 uncertain significance not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 119 of the SLC26A1 protein (p.Arg119Gln). This variant is present in population databases (rs368990025, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC26A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 64590). 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 SLC26A1 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.
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054777 SCV000077467 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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