ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala)

dbSNP: rs138421862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908004 SCV002144114 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001908004 SCV004023528 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV004040553 SCV004977890 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.398G>C (p.G133A) alteration is located in exon 4 (coding exon 4) of the UNC80 gene. This alteration results from a G to C substitution at nucleotide position 398, causing the glycine (G) at amino acid position 133 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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