ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His)

dbSNP: rs200927557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886623 SCV002152633 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 384 of the DIAPH1 protein (p.Arg384His). This variant is present in population databases (rs200927557, gnomAD 0.003%). 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: 1388325). 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.
Ambry Genetics RCV003264187 SCV003944696 uncertain significance Inborn genetic diseases 2023-04-10 criteria provided, single submitter clinical testing The c.1151G>A (p.R384H) alteration is located in exon 11 (coding exon 11) of the DIAPH1 gene. This alteration results from a G to A substitution at nucleotide position 1151, causing the arginine (R) at amino acid position 384 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV005051924 SCV005686122 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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