ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9731T>A (p.Leu3244His)

gnomAD frequency: 0.00001  dbSNP: rs886042769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000407228 SCV000336460 uncertain significance not provided 2015-10-21 criteria provided, single submitter clinical testing
Invitae RCV002518903 SCV003479669 uncertain significance Spastic paraplegia 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 3244 of the SACS protein (p.Leu3244His). This variant is not present in population databases (gnomAD no frequency). 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: 284017). 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.

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