ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038924 SCV001202425 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-02-12 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 551 of the IGHMBP2 protein (p.Ser551Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs768685672, ExAC 0.002%). This variant has not been reported in the literature in individuals 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: Tolerated; 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.

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