ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) (rs756791529)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595530 SCV000707005 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000642627 SCV000894657 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000642627 SCV000764314 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with tyrosine at codon 369 of the IGHMBP2 protein (p.Phe369Tyr). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is present in population databases (rs756791529, ExAC 0.009%). 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: "Probably 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.

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