ClinVar Miner

Submissions for variant NM_014028.4(OSTM1):c.692dup (p.Ser232fs)

dbSNP: rs2114593143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000173 SCV002233988 pathogenic not provided 2021-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with OSTM1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser232Glufs*2) in the OSTM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OSTM1 are known to be pathogenic (PMID: 12627228, 15108279, 16813530).
3billion RCV005253964 SCV005906089 pathogenic Autosomal recessive osteopetrosis 5 2023-11-10 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with OSTM1 related disorder (ClinVar ID: VCV001453192). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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