ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.165+19_166-48dup (rs180177174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586162 SCV000693977 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing Variant summary: The AGXT c.165+19_165+92dup74 variant involves the duplication of 74 nucleotides in the first intron of the AGXT gene. 5/5 splice prediction tools predict no significant impact on the splice donor site. This variant was found in 4/221932 control chromosomes from gnomAD at a frequency of 0.00001802, however this frequency may not be accurate since a duplication of this size may not be captured properly by gnomAD/ExAC and similar overlapping duplications are present at low frequencies. This variant is widely reported as a polymorphism found in general population in literature and generally forms a haplotype with other two polymorphisms P11L and I340M (Purdue_1991, Coulter-Mackie_2003, Wang_2016). Its reported allele frequencies in multiple ethnic backgrounds from publications are 6.5% in European controls (Purdue_1991), 9% in South African controls (Coulter-Mackie_2003) and 3% in Chinese controls (Wang_2016), however, all control cohorts in these studies are small with less than or equal to 200 control chromosomes. This variant or its haplotypic form has been reported in the same chromosome (in cis) with known pathogenic or likely pathogenic variants, such as G170R, A112D, and R333X (Coulter-Mackie_2003, Wang_2016), further supporting benign outcome. In addition, this variant is unlikely to affect splicing because stable AGT mRNA produced was derived from the haplotype comprising this variant, p.Pro11Leu and p.Ile340Met (Purdue_1991). Taken together, this variant is classified likely benign.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186228 SCV000239552 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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