ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe)

gnomAD frequency: 0.00001  dbSNP: rs754118993
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206435 SCV001377743 uncertain significance Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2019-10-12 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SIGMAR1-related conditions. This variant is present in population databases (rs754118993, ExAC 0.01%). This sequence change replaces leucine with phenylalanine at codon 218 of the SIGMAR1 protein (p.Leu218Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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