ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg)

gnomAD frequency: 0.00013  dbSNP: rs376593325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150400 SCV000197577 uncertain significance not specified 2013-11-19 criteria provided, single submitter clinical testing The Pro1077Arg variant in DIAPH1 has been identified in 0.027% (1/3664) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs376593325). Computational analy ses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of thi s variant.
Eurofins Ntd Llc (ga) RCV000726655 SCV000701976 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000802483 SCV000942317 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1077 of the DIAPH1 protein (p.Pro1077Arg). This variant is present in population databases (rs376593325, 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: 163067). 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.

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