ClinVar Miner

Submissions for variant NM_030954.4(RNF170):c.396G>A (p.Thr132=)

dbSNP: rs766110198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002052256 SCV002318859 uncertain significance Spastic paraplegia 85, autosomal recessive 2022-03-22 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:0.000004). In silico tools predict the variant to alter splicing and produce an abnormal transcript (SPLICEAI: 0.95>=0.8). The variant is in trans with the other variant (3billion dataset). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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