ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.300+7T>C

gnomAD frequency: 0.00001  dbSNP: rs760784874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822266 SCV002066278 uncertain significance not specified 2020-07-30 criteria provided, single submitter clinical testing DNA sequence analysis of the DIAPH1 gene demonstrated a sequence change in intron 3, c.300+7T>C. This change does not appear to have been previously described in patients with DIAPH1-related disorders. It has been described in the gnomAD database with a low population frequency of 0.003% (dbSNP rs760784874). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the DIAPH1 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Labcorp Genetics (formerly Invitae), Labcorp RCV002077277 SCV002436520 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-11-14 criteria provided, single submitter clinical testing

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