ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys)

gnomAD frequency: 0.00001  dbSNP: rs766731479
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699939 SCV000828671 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-09-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 577243). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs766731479, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 808 of the DIAPH1 protein (p.Asn808Lys).

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