Submissions for variant NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg)

gnomAD frequency: 0.00007  dbSNP: rs769644598

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503654	SCV000595498	uncertain significance	not specified	2016-04-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001857117	SCV002171222	uncertain significance	not provided	2021-12-02	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2633 of the LAMA1 protein (p.Gly2633Arg). This variant is present in population databases (rs769644598, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435703).
CeGaT Center for Human Genetics Tuebingen	RCV001857117	SCV004144779	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	LAMA1: BP4
Ambry Genetics	RCV004023379	SCV004895552	uncertain significance	Inborn genetic diseases	2024-11-25	criteria provided, single submitter	clinical testing	The c.7897G>A (p.G2633R) alteration is located in exon 55 (coding exon 55) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 7897, causing the glycine (G) at amino acid position 2633 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Daryl Scott Lab, Baylor College of Medicine	RCV005222978	SCV005871157	uncertain significance	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	2024-01-01	criteria provided, single submitter	clinical testing	BS2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817722	SCV005070274	uncertain significance	Retinal dystrophy	2022-01-01	no assertion criteria provided	clinical testing