ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)

dbSNP: rs1553648333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666432 SCV000790724 uncertain significance Primary hyperoxaluria, type I 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530684 SCV003199444 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This variant, c.260_271del, results in the deletion of 4 amino acid(s) of the AGXT protein (p.Glu87_Leu90del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGXT-related conditions. ClinVar contains an entry for this variant (Variation ID: 551383). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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