ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.*51G>T

gnomAD frequency: 0.00001  dbSNP: rs768783740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797276 SCV000936825 uncertain significance Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2020-11-11 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. Experimental studies have shown that this sequence change increases expression of the SIGMAR1 gene (PMID: 21031579). This variant has been observed to segregate with frontotemporal lobar degeneration and motor neuron disease (FTLD-MND) in a family (PMID: 21031579). This variant is also known as c.672*51G>T. ClinVar contains an entry for this variant (Variation ID: 643550). This variant is present in population databases (rs768783740, ExAC 0.002%). This sequence change falls in the 3'-untranslated region (UTR) of the SIGMAR1 gene. It does not directly change the encoded amino acid sequence of the SIGMAR1 protein.

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