ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.2633G>A (p.Arg878His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131267 SCV003813394 uncertain significance Opsismodysplasia 2022-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162199 SCV003872685 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.2633G>A (p.R878H) alteration is located in exon 23 (coding exon 23) of the INPPL1 gene. This alteration results from a G to A substitution at nucleotide position 2633, causing the arginine (R) at amino acid position 878 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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