ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.130G>A (p.Ala44Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002694901 SCV002991169 uncertain significance Imerslund-Grasbeck syndrome 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 44 of the AMN protein (p.Ala44Thr). This variant is present in population databases (rs138106067, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with AMN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004066880 SCV004896603 uncertain significance Inborn genetic diseases 2021-08-18 criteria provided, single submitter clinical testing The c.130G>A (p.A44T) alteration is located in exon 2 (coding exon 2) of the AMN gene. This alteration results from a G to A substitution at nucleotide position 130, causing the alanine (A) at amino acid position 44 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004725355 SCV005333577 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005008692 SCV005637454 uncertain significance Imerslund-Grasbeck syndrome type 2 2024-06-21 criteria provided, single submitter clinical testing

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