ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)

gnomAD frequency: 0.00003  dbSNP: rs1172044277
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992788 SCV001145332 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing
Invitae RCV001858756 SCV002169018 uncertain significance Spastic paraplegia 2022-06-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1440 of the SACS protein (p.Ser1440Gly). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 805296). 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.
GeneDx RCV000992788 SCV003924662 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001832308 SCV002086274 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-26 no assertion criteria provided clinical testing

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