Submissions for variant NM_024417.5(FDXR):c.623C>T (p.Thr208Met)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV002472139	SCV002768572	uncertain significance	Auditory neuropathy-optic atrophy syndrome	2020-06-11	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as 3B-VUS. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene (PMID: 28965846, 29040572). (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from a threonine to a methionine (exon 7 of 12). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (11 heterozygotes, 0 homozygotes). (P) 0502 - Missense variant with conflicting in silico predictions. (N) 0600 - Variant is located in an annotated domain or motif (FAD/NAD binding domain; PMID: 29040572). (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
WangQJ Lab, Chinese People's Liberation Army General Hospital	RCV003483892	SCV004229038	likely pathogenic	Auditory neuropathy	2023-12-22	criteria provided, single submitter	research