ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)

gnomAD frequency: 0.00001  dbSNP: rs772907934
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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 RCV000992792 SCV001145336 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
Invitae RCV001051001 SCV001215134 uncertain significance Spastic paraplegia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1547 of the SACS protein (p.Arg1547Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs772907934, ExAC 0.008%). 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: "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-Nilou Lab RCV001784522 SCV002026528 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001784522 SCV002086272 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-01 no assertion criteria provided clinical testing

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