Submissions for variant NM_015202.5(KATNIP):c.980G>A (p.Arg327His)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002928771	SCV003275208	uncertain significance	not provided	2023-05-22	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 327 of the KIAA0556 protein (p.Arg327His). This variant is present in population databases (rs767946597, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with KIAA0556-related conditions. ClinVar contains an entry for this variant (Variation ID: 2064291).
Ambry Genetics	RCV004068012	SCV004067213	uncertain significance	not specified	2023-06-27	criteria provided, single submitter	clinical testing	The c.980G>A (p.R327H) alteration is located in exon 9 (coding exon 9) of the KIAA0556 gene. This alteration results from a G to A substitution at nucleotide position 980, causing the arginine (R) at amino acid position 327 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004744494	SCV005345575	benign	KATNIP-related disorder	2024-09-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).