ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)

gnomAD frequency: 0.00001  dbSNP: rs370296035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848506 SCV002105321 uncertain significance Hereditary spastic paraplegia 2019-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543408 SCV003247867 uncertain significance Infantile-onset ascending hereditary spastic paralysis 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1607 of the ALS2 protein (p.Tyr1607Phe). This variant is present in population databases (rs370296035, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ALS2-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: "Possibly 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.

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