ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)

gnomAD frequency: 0.00097  dbSNP: rs142872154
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194949 SCV000246862 uncertain significance not specified 2014-06-26 criteria provided, single submitter clinical testing
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences RCV000201551 SCV000256235 uncertain significance Microcephaly 4, primary, autosomal recessive 2015-10-26 criteria provided, single submitter clinical testing The c. 6560A>G is classified as of unknown significance. Per ACMG criteria, it does have silico prediction criteria PP3. The variant is predicted pathogenic by SIFT, Mutation tasting, Provean (-3.624), and PolyPhen-2 (0.999). The physiochemical difference between Aspartic acid and Glycine is moderate (Grantham score=94) and amino acid analysis conservation by Alamut indicates that the wild type amino acid is moderately conserved. The c.6560A>G variant is very rare in the general population, but particularly found in patients of African ancestry with a reported heterozygous median allele frequency of 0.0034 (33/9694 alleles) in the Exome Aggregation Consortium and 0.0022 (8/3660) in the Exome Variant Server for people of this ancestry.
Labcorp Genetics (formerly Invitae), Labcorp RCV000960686 SCV001107696 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000201551 SCV001519912 uncertain significance Microcephaly 4, primary, autosomal recessive 2019-12-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000960686 SCV001791450 uncertain significance not provided 2024-11-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28901661, 22983954, 27149178, 36474027)
Daryl Scott Lab, Baylor College of Medicine RCV000201551 SCV002515345 uncertain significance Microcephaly 4, primary, autosomal recessive 2022-02-01 criteria provided, single submitter clinical testing
OMIM RCV000201551 SCV000692467 pathogenic Microcephaly 4, primary, autosomal recessive 2018-02-19 no assertion criteria provided literature only

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