ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) (rs778479139)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000191977 SCV000891684 pathogenic Brown-Vialetto-Van Laere syndrome 1 2017-12-30 criteria provided, single submitter curation
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV001195405 SCV001365755 uncertain significance not specified 2019-08-27 criteria provided, single submitter clinical testing The p.Arg212Cys with SLC52A3 has been previously reported in 3 homozygous individuals of Arab decent with suspected Brown-Vialetto-Van-Laere syndrome; however, it was not clear if these individuals were related (Manole 2017). In the same study, the variant was also reported in the homozygous state in one individual who was unaffected at the age of 12 years. The variant has also been identified in 0.002% (2/111872) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein. Of note, three mammals (opossum, Tasmanian devil, platypus) harbor a cysteine (Cys) at this position, suggesting that this change may be tolerated. In summary, the clinical significance of this variant is uncertain due to the presence of conflicting data. ACMG/AMP criteria applied: PM2, PM3_Supporting, BP4.
GeneReviews RCV000191977 SCV000246233 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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