ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val)

gnomAD frequency: 0.00001  dbSNP: rs1241574813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641753 SCV000763401 uncertain significance Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 115 of the SIGMAR1 protein (p.Gly115Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of SIGMAR1-related conditions (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 534263). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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