ClinVar Miner

Submissions for variant NM_000484.4(APP):c.1030G>A (p.Ala344Thr)

gnomAD frequency: 0.00001  dbSNP: rs201045185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809717 SCV000949887 uncertain significance Alzheimer disease 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 344 of the APP protein (p.Ala344Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 653874). This variant has not been reported in the literature in individuals affected with APP-related conditions. This variant is present in population databases (rs201045185, ExAC 0.006%).

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