ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)

dbSNP: rs200076129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543324 SCV000641266 uncertain significance Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 155 of the SIGMAR1 protein (p.Gly155Arg). This variant is present in population databases (rs200076129, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SIGMAR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 465869). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Athena Diagnostics Inc RCV001662555 SCV001880310 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330884 SCV002633604 uncertain significance Inborn genetic diseases 2021-02-05 criteria provided, single submitter clinical testing The p.G155R variant (also known as c.463G>A), located in coding exon 4 of the SIGMAR1 gene, results from a G to A substitution at nucleotide position 463. The glycine at codon 155 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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