ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.299G>T (p.Gly100Val)

gnomAD frequency: 0.00001  dbSNP: rs772854398
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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 RCV002021585 SCV002315561 uncertain significance Hereditary spastic paraplegia 50 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 100 of the AP4M1 protein (p.Gly100Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs772854398, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with AP4M1-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 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.

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