ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)

dbSNP: rs1588980220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab, University Hospital Cologne RCV000855490 SCV000996620 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002536200 SCV003249317 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 164 of the ASAH1 protein (p.Gly164Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ASAH1-related conditions (PMID: 31680123). ClinVar contains an entry for this variant (Variation ID: 692297). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ASAH1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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