Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000624111 | SCV000741735 | likely pathogenic | Inborn genetic diseases | 2020-03-12 | criteria provided, single submitter | clinical testing | The alteration results in an amino acid change: The c.170C>T (p.S57F) alteration is located in coding exon 1 of the MAF gene. This alteration results from a C to T substitution at nucleotide position 170, causing the serine (S) at amino acid position 57 to be replaced by a phenylalanine (F). The alteration is not observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the MAF c.170C>T alteration was not observed, with coverage at this position. The alteration has been observed in affected individuals: This alteration was detected in a patient with congenital cataracts, sensorineural hearing loss, reduced growth, and flat face in addition to other features consistent with Ayme-Gripp syndrome (Niceta, 2020). The altered amino acid is conserved throughout evolution: The p.S57 amino acid is conserved in available vertebrate species. The alteration is predicted inconclusive by in silico modeling: The in silico prediction for the p.S57F alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic. |