Submissions for variant NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr)

gnomAD frequency: 0.00032  dbSNP: rs56877937

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000489433	SCV000577490	uncertain significance	not provided	2017-03-28	criteria provided, single submitter	clinical testing	The A547T variant in the ABCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A547T variant is observed in 84/8576 (0.98%) alleles from individuals of East Asian background, including 1 homozygous individual, in the ExAC dataset (Lek et al., 2016). The A547T 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. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A547T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000489433	SCV001023064	benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000489433	SCV005074553	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ABCC6: BS2