ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.494T>C (p.Phe165Ser)

gnomAD frequency: 0.00005  dbSNP: rs1010722195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bicknell laboratory, University of Otago RCV001527367 SCV001738347 pathogenic Meier-Gorlin syndrome criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV003314693 SCV004014692 likely pathogenic Microcephaly, short stature, and limb abnormalities 2023-05-05 criteria provided, single submitter clinical testing The DONSON c.494T>C (p.Phe165Ser) missense variant has been reported in a compound heterozygous state in one individual with Meier-Gorlin syndrome (PMID: 31784481). This variant is reported in the Genome Aggregation Database in 5 alleles at a frequency of 0.000174 in the African/African American population (version 3.1.2), which is consistent with estimates of disease prevalence in this population. A functional study conducted in human cell lines demonstrated that this variant impairs normal subcellular localization (PMID: 31784481). Multiple lines of computational evidence suggest this variant may impact the gene or gene product. Based on the evidence, the c.494T>C (p.Phe165Ser) variant is classified as likely pathogenic for microcephaly, short stature, and limb abnormalities.

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