Submissions for variant NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala)

gnomAD frequency: 0.00421  dbSNP: rs143894913

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493583	SCV000582768	uncertain significance	not provided	2017-05-18	criteria provided, single submitter	clinical testing	The T498A variant in the FAM126A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T498A variant is observed in 154/10400 (1.48%) alleles from individuals of African background in large population cohorts with no homozygous control individuals reported (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T498A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T498A as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086502	SCV000644966	benign	Hypomyelination and Congenital Cataract	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000493583	SCV004163829	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	HYCC1: BP4, BS1, BS2