Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000049299 | SCV001445899 | likely pathogenic | Scalp-ear-nipple syndrome | 2019-05-06 | criteria provided, single submitter | clinical testing | This variant has been previously reported as a heterozygous change in patients with Scalp-ear-nipple syndrome (PMID: 10517259, 23541344). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.185G>A (p.Gly62Asp) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.185G>A (p.Gly62Asp) variant is classified as Likely Pathogenic. |
OMIM | RCV000049299 | SCV000077556 | pathogenic | Scalp-ear-nipple syndrome | 2013-04-04 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000049299 | SCV000281685 | pathogenic | Scalp-ear-nipple syndrome | 2014-01-29 | no assertion criteria provided | research |