ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037235 SCV001200639 uncertain significance Spastic paraplegia 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 4025 of the SACS protein (p.Asn4025Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs778310483, ExAC 0.03%). This variant has been observed in individual(s) with clinical features of hereditary spastic paraplegia (Invitae). 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.
Natera, Inc. RCV001277477 SCV001464432 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-07-22 no assertion criteria provided clinical testing

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