ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu)

gnomAD frequency: 0.00003  dbSNP: rs760797227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816864 SCV000957391 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 714 of the DIAPH1 protein (p.Pro714Leu). This variant is present in population databases (rs760797227, 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: 659806). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003955526 SCV004780314 uncertain significance DIAPH1-related disorder 2023-12-19 no assertion criteria provided clinical testing The DIAPH1 c.2141C>T variant is predicted to result in the amino acid substitution p.Pro714Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0038% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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