Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624705 | SCV000741374 | likely pathogenic | Inborn genetic diseases | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591396 | SCV001822865 | likely pathogenic | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29040572, 33348459) |
3billion | RCV002051869 | SCV002318672 | likely pathogenic | Auditory neuropathy-optic atrophy syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000520993, PMID:29040572). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000159). A missense variant is a common mechanism associated with Auditory neuropathy and optic atrophy. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Prevention |
RCV003965306 | SCV004778519 | uncertain significance | FDXR-related condition | 2023-11-30 | criteria provided, single submitter | clinical testing | The FDXR c.221C>T variant is predicted to result in the amino acid substitution p.Pro74Leu. This variant has been reported in the heterozygous state, along with the p.Arg386Trp variant, in an individual with mitochondriopathy and optic atrophy (Table 1, Peng et al. 2017. PubMed ID: 29040572). This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |