ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.367_371del (p.Thr123fs)

dbSNP: rs1736928101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060563 SCV001225262 pathogenic Aspartylglucosaminuria 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr123Hisfs*20) in the AGA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with aspartylglucosaminuria (PMID: 8457202). This variant is also known as a 5 bp deletion (ACACA). ClinVar contains an entry for this variant (Variation ID: 855317). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV001060563 SCV001573055 pathogenic Aspartylglucosaminuria 2019-12-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001060563 SCV002060047 likely pathogenic Aspartylglucosaminuria 2021-11-16 criteria provided, single submitter clinical testing NM_000027.3(AGA):c.367_371del5(T123Hfs*20) is a frameshifting truncation variant classified as likely pathogenic in the context of aspartylglucosaminuria. T123Hfs*20 has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. T123Hfs*20 has not been observed in population frequency databases. In summary, NM_000027.3(AGA):c.367_371del5(T123Hfs*20) is a frameshifting truncation variant in a gene where loss of function is a known mechanism of disease and is predicted to disrupt protein function. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV001060563 SCV004217582 pathogenic Aspartylglucosaminuria 2023-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001060563 SCV005662085 pathogenic Aspartylglucosaminuria 2024-01-19 criteria provided, single submitter clinical testing

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