ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser)

gnomAD frequency: 0.00001  dbSNP: rs368241137
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804761 SCV000944685 uncertain significance Spastic paraplegia 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1484 of the ZFYVE26 protein (p.Arg1484Ser). This variant is present in population databases (rs368241137, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ZFYVE26-related conditions. ClinVar contains an entry for this variant (Variation ID: 649757). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849108 SCV002106065 uncertain significance Hereditary spastic paraplegia 2019-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495094 SCV002780087 uncertain significance Hereditary spastic paraplegia 15 2021-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537183 SCV003742462 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.4452G>C (p.R1484S) alteration is located in exon 22 (coding exon 21) of the ZFYVE26 gene. This alteration results from a G to C substitution at nucleotide position 4452, causing the arginine (R) at amino acid position 1484 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480840 SCV004227315 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing BP4
Breakthrough Genomics, Breakthrough Genomics RCV003480840 SCV005191437 uncertain significance not provided criteria provided, single submitter not provided

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