ClinVar Miner

Submissions for variant NM_007126.5(VCP):c.553G>A (p.Glu185Lys) (rs864309501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823223 SCV000964074 uncertain significance Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 185 of the VCP protein (p.Glu185Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in a family (PMID: 25125609). ClinVar contains an entry for this variant (Variation ID: 218305). Experimental studies have shown that this missense change leads to impaired cellular autophagic function (PMID: 25125609). 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.
OMIM RCV000202444 SCV000257497 pathogenic Charcot-Marie-Tooth disease, axonal, type 2y 2014-11-01 no assertion criteria provided literature only

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