ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)

gnomAD frequency: 0.00001  dbSNP: rs762610527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633037 SCV000754249 uncertain significance Spastic paraplegia 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2714 of the SACS protein (p.Ser2714Leu). This variant is present in population databases (rs762610527, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 527993). 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: "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 RCV001849004 SCV002105092 uncertain significance Hereditary spastic paraplegia 2021-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835887 SCV002086213 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-03-24 no assertion criteria provided clinical testing

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