ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu)

dbSNP: rs2112032750
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905409 SCV002128728 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-01-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 303 of the AMACR protein (p.Val303Glu). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with AMACR-related conditions.

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