ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)

dbSNP: rs2137551379
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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 RCV001847522 SCV002104989 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545259 SCV003445567 uncertain significance Spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 4389 of the SACS protein (p.Ser4389Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SACS-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: "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.

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