ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.298A>G (p.Met100Val)

dbSNP: rs752682155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934515 SCV002134245 uncertain significance Hereditary spastic paraplegia 47 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 100 of the AP4B1 protein (p.Met100Val). This variant is present in population databases (rs752682155, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AP4B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1362639). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003247067 SCV003939909 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.298A>G (p.M100V) alteration is located in exon 3 (coding exon 2) of the AP4B1 gene. This alteration results from a A to G substitution at nucleotide position 298, causing the methionine (M) at amino acid position 100 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001934515 SCV004050697 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing

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