Submissions for variant NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)

gnomAD frequency: 0.00014  dbSNP: rs150171154

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001093191	SCV001250049	uncertain significance	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001093191	SCV002198367	uncertain significance	not provided	2023-12-23	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 563 of the LAMC3 protein (p.Arg563Gln). This variant is present in population databases (rs150171154, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LAMC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 872612). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV002555965	SCV003747525	uncertain significance	Inborn genetic diseases	2022-07-31	criteria provided, single submitter	clinical testing	The c.1688G>A (p.R563Q) alteration is located in exon 10 (coding exon 10) of the LAMC3 gene. This alteration results from a G to A substitution at nucleotide position 1688, causing the arginine (R) at amino acid position 563 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV001093191	SCV005191347	uncertain significance	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001093191	SCV001807044	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001093191	SCV001971701	likely benign	not provided		no assertion criteria provided	clinical testing