ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)

dbSNP: rs1554808625
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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 RCV002536315 SCV003440187 pathogenic not provided 2022-09-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 235 of the ASAH1 protein (p.Gly235Arg). This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this missense change affects ASAH1 function (PMID: 12638942). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 545563). This missense change has been observed in individual(s) with ASAH1-related conditions (PMID: 12638942, 24355074, 27411168). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
GeneReviews RCV000656521 SCV000778527 not provided Farber lipogranulomatosis no assertion provided literature only

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