ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002942871 SCV003272915 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs747273584, gnomAD 0.02%). This variant, c.2151_2153del, results in the deletion of 1 amino acid(s) of the DIAPH1 protein (p.Pro719del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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