ClinVar Miner

Submissions for variant NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)

gnomAD frequency: 0.00004  dbSNP: rs151069701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052213 SCV001216413 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 848451). This variant has not been reported in the literature in individuals affected with ABHD12-related conditions. This variant is present in population databases (rs151069701, gnomAD 0.02%). This sequence change affects codon 105 of the ABHD12 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABHD12 protein. It affects a nucleotide within the consensus splice site.
Illumina Laboratory Services, Illumina RCV001140918 SCV001301223 uncertain significance PHARC syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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