ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys)

gnomAD frequency: 0.00356  dbSNP: rs143763573
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219055 SCV000268942 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Phe1076Cys in Exon 24 of DIAPH1: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (31/2966) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143763573).
Illumina Laboratory Services, Illumina RCV000382860 SCV000453364 benign Autosomal dominant nonsyndromic hearing loss 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000560299 SCV000655963 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722143 SCV000723263 benign not provided 2019-04-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30819905)
CeGaT Center for Human Genetics Tuebingen RCV001722143 SCV005093560 benign not provided 2024-07-01 criteria provided, single submitter clinical testing DIAPH1: BS1, BS2

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