Submissions for variant NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)

dbSNP: rs1555641324

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522161	SCV000621393	likely pathogenic	not provided	2017-10-06	criteria provided, single submitter	clinical testing	The A554V variant in the TBCD gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A554V variant is not observed in large population cohorts (Lek et al., 2016). The A554V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A554V as a likely pathogenic variant.
Centogene AG - the Rare Disease Company	RCV000723330	SCV001426431	pathogenic	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000723330	SCV000854725	pathogenic	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	2018-07-11	no assertion criteria provided	clinical testing