ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del)

dbSNP: rs3075570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728424 SCV000856000 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820393 SCV000961103 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-03-27 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 593399). This variant has been observed in individual(s) with epilepsy (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.1845_1853del, results in the deletion of 3 amino acid(s) of the DIAPH1 protein (p.Pro618_Pro620del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV004760759 SCV005370104 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 3 amino acids in a Pro-biased region; Has not been previously published as pathogenic or benign to our knowledge

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