ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu)

gnomAD frequency: 0.00004  dbSNP: rs757339076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001954639 SCV002195988 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-12-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1419218). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs757339076, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 94 of the DIAPH1 protein (p.Val94Leu).
Ambry Genetics RCV002560413 SCV003582278 uncertain significance Inborn genetic diseases 2021-10-21 criteria provided, single submitter clinical testing The c.280G>C (p.V94L) alteration is located in exon 3 (coding exon 3) of the DIAPH1 gene. This alteration results from a G to C substitution at nucleotide position 280, causing the valine (V) at amino acid position 94 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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