ClinVar Miner

Submissions for variant NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser)

dbSNP: rs2150978746
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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 RCV001808213 SCV002058812 uncertain significance Congenital muscular dystrophy with cataracts and intellectual disability 2022-01-03 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.915, 3CNET: 0.927, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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