Submissions for variant NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) (rs751749989)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000726352	SCV000344016	uncertain significance	not provided	2016-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000726352	SCV000572182	uncertain significance	not provided	2016-11-15	criteria provided, single submitter	clinical testing	The P3T variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P3T variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The P3T 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 mammalian species. However, in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret P3T as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics	RCV000763878	SCV000894813	uncertain significance	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Porencephaly 1; SCHIZENCEPHALY; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of	2018-10-31	criteria provided, single submitter	clinical testing

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