ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)

gnomAD frequency: 0.00002  dbSNP: rs142575695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041671 SCV001205297 pathogenic Combined malonic and methylmalonic acidemia 2023-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 839825). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for ACSF3-related disease (PMID: 30041674). This variant is present in population databases (rs142575695, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln142*) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111).
Baylor Genetics RCV001041671 SCV004215677 pathogenic Combined malonic and methylmalonic acidemia 2023-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274015 SCV001457697 pathogenic Methylmalonic acidemia 2020-09-16 no assertion criteria provided clinical testing

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