ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=)

gnomAD frequency: 0.00011  dbSNP: rs750444501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556533 SCV000655960 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615816 SCV000713189 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Ala962Ala in exon 22 of DIAPH1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 11/115 68 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs750444501).

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