ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.978-1G>A

gnomAD frequency: 0.00002  dbSNP: rs756599931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378316 SCV001575861 likely pathogenic Combined malonic and methylmalonic acidemia 2023-09-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1067132). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. This variant is present in population databases (rs756599931, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 5 of the ACSF3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111).
Baylor Genetics RCV001378316 SCV004215566 likely pathogenic Combined malonic and methylmalonic acidemia 2023-09-16 criteria provided, single submitter clinical testing

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