ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)

dbSNP: rs897181468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196954 SCV001367588 uncertain significance Spinocerebellar ataxia type 5 2020-03-15 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Ambry Genetics RCV004678983 SCV005173034 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.901A>G (p.M301V) alteration is located in exon 9 (coding exon 8) of the SPTBN2 gene. This alteration results from a A to G substitution at nucleotide position 901, causing the methionine (M) at amino acid position 301 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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