ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002876524 SCV003232660 uncertain significance Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2022-04-04 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SIGMAR1-related conditions. This variant is present in population databases (rs755288111, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 188 of the SIGMAR1 protein (p.Asp188Asn). 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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