ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) (rs771242219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525461 SCV000642262 uncertain significance Spastic paraplegia 11, autosomal recessive 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2015 of the SPG11 protein (p.Asp2015Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs771242219, ExAC 0.001%). This variant has been observed in the heterozygous state in an individual affected with amyotrophic lateral sclerosis (PMID: 28160950). ClinVar contains an entry for this variant (Variation ID: 466550). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000765210 SCV000896446 uncertain significance Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 2018-10-31 criteria provided, single submitter clinical testing

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