Submissions for variant NM_001142730.3(KCTD1):c.2133+4A>G

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002579407	SCV003489637	uncertain significance	not provided	2022-06-26	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. This sequence change falls in intron 3 of the KCTD1 gene. It does not directly change the encoded amino acid sequence of the KCTD1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752591756, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with KCTD1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.
Fulgent Genetics, Fulgent Genetics	RCV005021586	SCV005652421	uncertain significance	Scalp-ear-nipple syndrome	2024-05-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953903	SCV004776017	likely benign	KCTD1-related disorder	2020-02-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).