ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup)

dbSNP: rs1562320985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824349 SCV000965245 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-07-19 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: 665955). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.1852_1860dup, results in the insertion of 3 amino acid(s) of the DIAPH1 protein (p.Pro618_Pro620dup), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001546501 SCV001766028 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing In-frame insertion in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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