ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)

gnomAD frequency: 0.00001  dbSNP: rs767665196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064896 SCV001229830 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 160 of the IGHMBP2 protein (p.Ser160Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs767665196, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. 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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