ClinVar Miner

Submissions for variant NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)

dbSNP: rs587777003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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, University of Washington RCV000049299 SCV000281685 pathogenic Scalp-ear-nipple syndrome 2014-01-29 no assertion criteria provided research

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