Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002330710 | SCV002634370 | uncertain significance | Maturity onset diabetes mellitus in young | 2016-01-04 | criteria provided, single submitter | clinical testing | The p.D160H variant (also known as c.478G>C), located in coding exon 4 of the GCK gene, results from a G to C substitution at nucleotide position 478. The aspartic acid at codon 160 is replaced by histidine, an amino acid with similar properties. Two other alterations at the same codon, p.D160N (c.478G>A) and p.D160E (c.480T>A), have been reported in families with MODY (Osbak KK et al. Hum Mutat. 2009;30(11):1512-26). The p.D160H variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. Family studies may help to elucidate the clinical impact of this alteration. |