ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)

gnomAD frequency: 0.00014  dbSNP: rs775424355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315042 SCV001505598 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 949 of the DIAPH1 protein (p.Gln949Arg). This variant is present in population databases (rs775424355, gnomAD 0.1%). 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: 1016091). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002543661 SCV003722238 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.2846A>G (p.Q949R) alteration is located in exon 22 (coding exon 22) of the DIAPH1 gene. This alteration results from a A to G substitution at nucleotide position 2846, causing the glutamine (Q) at amino acid position 949 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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