ClinVar Miner

Submissions for variant NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)

gnomAD frequency: 0.00072  dbSNP: rs139309795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595044 SCV000708403 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595044 SCV001060745 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000595044 SCV001989297 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing Identified with the K234R variant on the same allele (in cis) in individuals with relapses in visceral leishmaniasis infection after treatment; the [K234R;R405X] allele was observed in both the heterozygous and homozygous state in the affected individuals and was also heterozygous in unaffected parents (Marquet et al., 2017); Published functional studies on the p.(R405*) variant alone demonstrate a damaging effect on protein expression and cellular activity; when combined with p.(K234R), functional studies demonstrate a more significant reduction in protein expression (Watschinger et al., 2018); Nonsense variant predicted to result in protein truncation as the last 41 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 28586473, 29741738, 31345219)

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