ClinVar Miner

Submissions for variant NM_001267052.2(UNC45B):c.2641G>A (p.Ala881Thr)

gnomAD frequency: 0.00173  dbSNP: rs144969600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905443 SCV001050028 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678863 SCV005180716 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.2647G>A (p.A883T) alteration is located in exon 20 (coding exon 19) of the UNC45B gene. This alteration results from a G to A substitution at nucleotide position 2647, causing the alanine (A) at amino acid position 883 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000905443 SCV005214656 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003950648 SCV004760307 benign UNC45B-related disorder 2020-06-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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