ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)

gnomAD frequency: 0.00076  dbSNP: rs141670485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336499 SCV001529901 uncertain significance Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2018-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002547357 SCV003272883 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 268 of the SCYL1 protein (p.Met268Ile). This variant is present in population databases (rs141670485, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SCYL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033946). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV002547357 SCV004136915 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing

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