Submissions for variant NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn) (rs776226690)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000686839	SCV000814376	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2017-10-05	criteria provided, single submitter	clinical testing	This sequence change replaces serine with asparagine at codon 141 of the DYNC1H1 protein (p.Ser141Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs776226690, ExAC 0.03%). This variant has not been reported in the literature in individuals with DYNC1H1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics	RCV000719069	SCV000849933	uncertain significance	History of neurodevelopmental disorder	2017-03-17	criteria provided, single submitter	clinical testing	Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)

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