ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) (rs200007067)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236775 SCV000292587 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000533172 SCV000642297 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 370 of the IGHMBP2 protein (p.Asp370Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs200007067, ExAC 0.05%) but has not been reported in the literature in individuals with an IGHMBP2-related disease. ClinVar contains an entry for this variant (Variation ID: 245628). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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