ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu)

gnomAD frequency: 0.00001  dbSNP: rs367592859
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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 RCV001893034 SCV002162027 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2021-08-19 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs367592859, ExAC 0.003%). This sequence change replaces valine with leucine at codon 401 of the DIAPH1 protein (p.Val401Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. 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 RCV004039169 SCV004857585 uncertain significance Inborn genetic diseases 2023-10-06 criteria provided, single submitter clinical testing The c.1201G>C (p.V401L) alteration is located in exon 12 (coding exon 12) of the DIAPH1 gene. This alteration results from a G to C substitution at nucleotide position 1201, causing the valine (V) at amino acid position 401 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004774508 SCV005387251 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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