ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)

gnomAD frequency: 0.00011  dbSNP: rs558572111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000293515 SCV000373390 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713042 SCV000843609 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713042 SCV004265483 uncertain significance not provided 2023-08-17 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 1144 of the SPTBN2 protein (p.Arg1144Gln). This variant is present in population databases (rs558572111, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SPTBN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 305565). 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 SPTBN2 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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