ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9055A>C (p.Ser3019Arg)

dbSNP: rs2125019292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935090 SCV002174597 uncertain significance not provided 2021-06-17 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with UNC80-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 2953 of the UNC80 protein (p.Ser2953Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV004041784 SCV004977913 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.8857A>C (p.S2953R) alteration is located in exon 58 (coding exon 58) of the UNC80 gene. This alteration results from a A to C substitution at nucleotide position 8857, causing the serine (S) at amino acid position 2953 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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