ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu)

dbSNP: rs532329476
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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 RCV001915997 SCV002181814 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001915997 SCV002586430 uncertain significance not provided 2022-04-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002557602 SCV003645691 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.1079G>T (p.R360L) alteration is located in exon 8 (coding exon 8) of the UNC80 gene. This alteration results from a G to T substitution at nucleotide position 1079, causing the arginine (R) at amino acid position 360 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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