ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter)

gnomAD frequency: 0.00005  dbSNP: rs781767219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626131 SCV000746761 pathogenic Methylmalonate semialdehyde dehydrogenase deficiency 2020-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529778 SCV003728291 pathogenic Inborn genetic diseases 2021-01-27 criteria provided, single submitter clinical testing The c.1156C>T (p.R386*) alteration, located in exon 9 (coding exon 9) of the ALDH6A1 gene, consists of a C to T substitution at nucleotide position 1156. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 386. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD) database, the ALDH6A1 c.1156C>T alteration was observed in 0.01% (13/251344) of total alleles studied. Based on the available evidence, this alteration is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767838 SCV004654023 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg386*) in the ALDH6A1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALDH6A1 cause disease. This variant is present in population databases (rs781767219, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALDH6A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 522934). 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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