ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.131C>T (p.Thr44Met)

gnomAD frequency: 0.00005  dbSNP: rs369804864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210945 SCV002285644 likely pathogenic Spondyloenchondrodysplasia with immune dysregulation 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 44 of the ACP5 protein (p.Thr44Met). This variant is present in population databases (rs369804864, gnomAD 0.006%). This missense change has been observed in individual(s) with spondyloenchondrodysplasia (PMID: 26346816, 26951490; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 225657). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV002223820 SCV002502606 likely pathogenic not provided 2022-03-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000210945 SCV003822509 uncertain significance Spondyloenchondrodysplasia with immune dysregulation 2021-04-12 criteria provided, single submitter clinical testing
OMIM RCV000210945 SCV000267640 pathogenic Spondyloenchondrodysplasia with immune dysregulation 2017-08-25 no assertion criteria provided literature only

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