Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Research Center, |
RCV001353205 | SCV001442496 | likely pathogenic | Sensorineural hearing loss disorder | 2020-09-30 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
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. |