ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3775G>A (p.Val1259Met)

gnomAD frequency: 0.00002  dbSNP: rs552839268
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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 RCV001206132 SCV001377425 uncertain significance Nephronophthisis 14 2021-04-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1251 of the ZNF423 protein (p.Val1251Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ZNF423-related conditions. This variant is present in population databases (rs552839268, ExAC 0.006%).
Ambry Genetics RCV004686640 SCV005182324 uncertain significance not specified 2024-06-10 criteria provided, single submitter clinical testing The c.3751G>A (p.V1251M) alteration is located in exon 8 (coding exon 7) of the ZNF423 gene. This alteration results from a G to A substitution at nucleotide position 3751, causing the valine (V) at amino acid position 1251 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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