ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg)

gnomAD frequency: 0.00002  dbSNP: rs149234162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002826627 SCV003599494 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1862A>G (p.K621R) alteration is located in exon 16 (coding exon 15) of the CNOT1 gene. This alteration results from a A to G substitution at nucleotide position 1862, causing the lysine (K) at amino acid position 621 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004784112 SCV005397293 uncertain significance Vissers-Bodmer syndrome 2021-06-29 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (A>G) which results in a lysine to arginine amino acid change at residue 621 in the CNOT1 protein. This variant has not previously been reported in individuals with CNOT1-related disease, to our knowledge. This variant is rare in the gnomAD control population database (6/272260 alleles or 0.002%). Bioinformatic tools predict that this variant would be damaging, and the Lys621 residue is conserved in all the vertebrate species examined. Functiol studies testing the effect of this variant on protein structure or function have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this to be a variant of uncertain significance. ACMG Criteria: PM2, PP3

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