ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)

gnomAD frequency: 0.00001  dbSNP: rs182864646
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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 RCV000633042 SCV000754254 uncertain significance Spastic paraplegia 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 273 of the SACS protein (p.Phe273Tyr). This variant is present in population databases (rs182864646, gnomAD 0.006%). 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: 527998). 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.
Fulgent Genetics, Fulgent Genetics RCV001829781 SCV002791074 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829781 SCV002086748 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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