ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)

gnomAD frequency: 0.00004  dbSNP: rs149478319
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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 RCV001217263 SCV001389097 uncertain significance Hereditary spastic paraplegia 47 2019-04-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 83 of the AP4B1 protein (p.Ala83Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs149478319, ExAC 0.006%). This variant has not been reported in the literature in individuals with AP4B1-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847194 SCV002105532 uncertain significance Hereditary spastic paraplegia 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562425 SCV003706272 uncertain significance Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing The c.247G>C (p.A83P) alteration is located in exon 3 (coding exon 2) of the AP4B1 gene. This alteration results from a G to C substitution at nucleotide position 247, causing the alanine (A) at amino acid position 83 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001217263 SCV004050699 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing

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