ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)

dbSNP: rs886048552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378762 SCV000373429 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021520 SCV004957127 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.476G>A (p.R159Q) alteration is located in exon 4 (coding exon 3) of the SPTBN2 gene. This alteration results from a G to A substitution at nucleotide position 476, causing the arginine (R) at amino acid position 159 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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