Submissions for variant NM_017671.4(FERMT1):c.1600G>A (p.Ala534Thr) (rs2232078)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000311451	SCV000435000	uncertain significance	Kindler's syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000520612	SCV000619251	uncertain significance	not provided	2017-07-14	criteria provided, single submitter	clinical testing	The A534T variant in the FERMT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A534T variant is observed in 174/14,502 (1.2%) alleles from individuals of South Asian background, including multiple unrelated homozygous individuals, in the ExAC dataset (Lek et al., 2016). The A534T 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 A534T as a variant of uncertain significance.
Invitae	RCV000520612	SCV001105653	benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV000520612	SCV000986925	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 08/01/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.