Submissions for variant NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) (rs1332342693)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000533596	SCV000651593	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2018-10-09	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with aspartic acid at codon 3584 of the DYNC1H1 protein (p.Asn3584Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a heterozygous individual unaffected by DYNC1H1 related conditions (Invitae). 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: "Benign"; Align-GVGD: "Class C15"). 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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