ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys)

gnomAD frequency: 0.00023  dbSNP: rs199783352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665297 SCV001875075 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001837021 SCV002098015 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2020-06-25 criteria provided, single submitter clinical testing
Invitae RCV001665297 SCV002166479 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3227 of the UNC80 protein (p.Glu3227Lys). This variant is present in population databases (rs199783352, gnomAD 0.06%). 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: 1254153). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt UNC80 protein function. 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.
Ambry Genetics RCV002539601 SCV003757429 uncertain significance Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing The c.9679G>A (p.E3227K) alteration is located in exon 64 (coding exon 64) of the UNC80 gene. This alteration results from a G to A substitution at nucleotide position 9679, causing the glutamic acid (E) at amino acid position 3227 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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