ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)

gnomAD frequency: 0.00001  dbSNP: rs776656956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045544 SCV001209404 uncertain significance Spastic paraplegia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1687 of the SACS protein (p.Thr1687Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs776656956, ExAC 0.003%). 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: "Benign"; 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.
Ambry Genetics RCV004659307 SCV005158968 uncertain significance Inborn genetic diseases 2024-03-28 criteria provided, single submitter clinical testing The c.5060C>T (p.T1687I) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 5060, causing the threonine (T) at amino acid position 1687 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276946 SCV001463613 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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