ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)

gnomAD frequency: 0.00016  dbSNP: rs367981585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526185 SCV000655946 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 423 of the DIAPH1 protein (p.Asp423Glu). This variant is present in population databases (rs367981585, gnomAD 0.05%). 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: 475696). 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.
Fulgent Genetics, Fulgent Genetics RCV000526185 SCV000897209 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2018-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001420579 SCV001622894 uncertain significance Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2020-07-03 criteria provided, single submitter clinical testing

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