ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)

gnomAD frequency: 0.00002  dbSNP: rs768918074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242394 SCV001415479 uncertain significance Charcot-Marie-Tooth disease type 4 2022-04-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 386 of the NDRG1 protein (p.Gly386Arg). This variant is present in population databases (rs768918074, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NDRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967473). 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. 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 RCV002564027 SCV003587135 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.1156G>A (p.G386R) alteration is located in exon 16 (coding exon 15) of the NDRG1 gene. This alteration results from a G to A substitution at nucleotide position 1156, causing the glycine (G) at amino acid position 386 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835126 SCV002085008 uncertain significance Charcot-Marie-Tooth disease type 4D 2020-06-22 no assertion criteria provided clinical testing

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