ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2581C>T (p.His861Tyr)

gnomAD frequency: 0.00001  dbSNP: rs759265754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814972 SCV000955411 uncertain significance Spastic paraplegia 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 861 of the SACS protein (p.His861Tyr). This variant is present in population databases (rs759265754, gnomAD 0.004%). 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: 658199). 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.
Ambry Genetics RCV003166340 SCV003886227 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.2581C>T (p.H861Y) 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 2581, causing the histidine (H) at amino acid position 861 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830785 SCV002086716 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-26 no assertion criteria provided clinical testing

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