ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)

dbSNP: rs773918503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237560 SCV001410324 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-09-13 criteria provided, single submitter clinical testing This variant, c.1854_1859dup, results in the insertion of 2 amino acid(s) of the DIAPH1 protein (p.Pro619_Pro620dup), but otherwise preserves the integrity of the reading frame. 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 has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 963523). 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 RCV003232259 SCV003929619 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing In-frame duplication of 2 amino acid(s) in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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