ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)

dbSNP: rs1554854341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV001353205 SCV001442496 likely pathogenic Sensorineural hearing loss disorder 2020-09-30 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV002510591 SCV002820190 likely pathogenic Brown-Vialetto-van Laere syndrome 2 criteria provided, single submitter clinical testing The missense variant p.C325G in SLC52A2 (NM_001363118.2) has been previously reported in individuals affected with progressive severe hearing loss, optic atrophy and ataxia (Babanejad et al, 2018). The p.C325G variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between cysteine and glycine, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The p.C325G missense variant is predicted to be damaging by both SIFT and PolyPhen2. The cysteine residue at codon 325 of SLC52A2 is conserved in all mammalian species. The nucleotide c.973 in SLC52A2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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