Submissions for variant NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002886616	SCV003253202	uncertain significance	Muscle AMP deaminase deficiency	2022-06-07	criteria provided, single submitter	clinical testing	This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 477 of the AMPD1 protein (p.Val477Ile). This variant is present in population databases (rs760431058, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV003542375	SCV004244467	uncertain significance	not provided	2023-11-07	criteria provided, single submitter	clinical testing	PM2, BP4

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