ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) (rs1566445036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686936 SCV000814477 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 546 of the IGHMBP2 protein (p.Asp546Ala). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IGHMBP2-related disease. 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: "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.
Illumina Clinical Services Laboratory,Illumina RCV001095756 SCV001251599 uncertain significance IGHMBP2-related neuronopathy 2020-01-13 criteria provided, single submitter clinical testing The IGHMBP2 c.1637A>C (p.Asp546Ala) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp546Ala variant is classified as a variant of unknown significance for IGHMBP2-related neuronopathy.

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