ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.6670G>A (p.Asp2224Asn)

gnomAD frequency: 0.00001  dbSNP: rs1363311880
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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 RCV002038664 SCV002313096 uncertain significance not provided 2022-08-20 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"). ClinVar contains an entry for this variant (Variation ID: 1520395). This variant has not been reported in the literature in individuals affected with UNC80-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2158 of the UNC80 protein (p.Asp2158Asn).
Ambry Genetics RCV002548956 SCV003595513 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.6472G>A (p.D2158N) alteration is located in exon 43 (coding exon 43) of the UNC80 gene. This alteration results from a G to A substitution at nucleotide position 6472, causing the aspartic acid (D) at amino acid position 2158 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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