Submissions for variant NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser)

gnomAD frequency: 0.00001  dbSNP: rs72466482

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001367374	SCV001563722	uncertain significance	Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B	2020-02-04	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is present in population databases (rs72466482, ExAC 0.01%). This sequence change replaces glycine with serine at codon 15 of the DCTN1 protein (p.Gly15Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.
Fulgent Genetics, Fulgent Genetics	RCV001367374	SCV002789106	uncertain significance	Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B	2021-11-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004597989	SCV005092516	uncertain significance	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DCTN1: PM2, BP4