ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314361 SCV004013642 uncertain significance Autosomal recessive spinocerebellar ataxia 2 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.35; 3Cnet: 0.84). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PMPCA related disorder (PMID: 32369273). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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