Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194949 | SCV000246862 | uncertain significance | not specified | 2014-06-26 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Pathology Laboratory, |
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. |
Invitae | 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]. |
Gene |
RCV000960686 | SCV001791450 | uncertain significance | not provided | 2022-08-22 | 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: 27149178, 28901661, 22983954) |
Daryl Scott Lab, |
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 |