ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.8461A>G (p.Ser2821Gly)

gnomAD frequency: 0.00014  dbSNP: rs201695718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733699 SCV000861792 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329502 SCV001520959 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2019-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000733699 SCV002293427 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 2755 of the UNC80 protein (p.Ser2755Gly). This variant is present in population databases (rs201695718, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UNC80-related conditions. ClinVar contains an entry for this variant (Variation ID: 597542). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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