ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789969 SCV000929356 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only
Invitae RCV000818850 SCV000959484 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 421 of the IGHMBP2 protein (p.Ser421Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in combination with another IGHMBP2 variant in an individual affected with spinal muscular atrophy (PMID: 23929295). 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: "Benign"; 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.

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