ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)

dbSNP: rs3075570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321943 SCV001512795 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1022074). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1839_1853del, results in the deletion of 5 amino acid(s) of the DIAPH1 protein (p.Pro616_Pro620del), but otherwise preserves the integrity of the reading frame. 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.
GeneDx RCV001575208 SCV001802156 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 5 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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