ClinVar Miner

Submissions for variant NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)

dbSNP: rs1592013653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tolun Lab, Human Genetics Laboratory, Bogazici University RCV000856603 SCV000920779 likely pathogenic Syndromic intellectual disability 2019-05-24 no assertion criteria provided clinical testing Anazi et al., 2017 reported homozygous missense c.248T>C (p.(Leu83Pro)) mutation in FAM160B1, in 3 siblings with a similar clinical manifestation with our patient, who has syndromic intellectual disability. The mutation we have found is a nonsense mutation, which probably leads to nonsense mediated mRNA decay. Our patient is the only one in the family who has the homozygous mutant genotype. The mutation is not found in any databases such as 1000 Genomes or gnomAD. Therefore, although the function of the protein is not known, we evaluated our mutation to be pathogenic.

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