ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro)

gnomAD frequency: 0.00001  dbSNP: rs746418816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809869 SCV000950049 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 920 of the DIAPH1 protein (p.Ser920Pro). This variant is present in population databases (rs746418816, gnomAD 0.004%). 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: 653993). 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 tolerated. 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.
GeneDx RCV003223678 SCV003919638 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003362965 SCV004073095 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.2758T>C (p.S920P) alteration is located in exon 21 (coding exon 21) of the DIAPH1 gene. This alteration results from a T to C substitution at nucleotide position 2758, causing the serine (S) at amino acid position 920 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003223678 SCV004227130 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing BP4, PM2

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