ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.305del (p.Cys102fs)

gnomAD frequency: 0.00001  dbSNP: rs760759040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814483 SCV000954896 pathogenic Combined malonic and methylmalonic acidemia 2022-10-04 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: 657796). This premature translational stop signal has been observed in individual(s) with clinical features of combined malonic and methylmalonic aciduria (Invitae). This variant is present in population databases (rs760759040, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Cys102Serfs*16) 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 RCV000814483 SCV004210588 likely pathogenic Combined malonic and methylmalonic acidemia 2023-06-28 criteria provided, single submitter clinical testing

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