ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV001223317 SCV001395459 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-01-01 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. This variant, c.1833_1853dup, results in the insertion of 7 amino acid(s) of the DIAPH1 protein (p.Pro614_Pro620dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 951411). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
Ambry Genetics RCV004978140 SCV005566374 uncertain significance Inborn genetic diseases 2024-10-18 criteria provided, single submitter clinical testing The c.1833_1853dupTCCTCCTCCTCCTCCTCCTCC (p.P614_P620dup) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. The alteration consists of an in-frame duplication of 21 nucleotides from position 1833 to 1853, resulting in the duplication of 7 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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