ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)

gnomAD frequency: 0.00001  dbSNP: rs571758306
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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 RCV001053754 SCV001218031 uncertain significance Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2019-04-16 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). This variant has not been reported in the literature in individuals with PITX2-related conditions. This variant is present in population databases (rs571758306, ExAC 0.009%). This sequence change replaces serine with asparagine at codon 261 of the PITX2 protein (p.Ser261Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.
Ambry Genetics RCV002553328 SCV003742177 uncertain significance Inborn genetic diseases 2021-08-19 criteria provided, single submitter clinical testing The c.782G>A (p.S261N) alteration is located in exon 5 (coding exon 3) of the PITX2 gene. This alteration results from a G to A substitution at nucleotide position 782, causing the serine (S) at amino acid position 261 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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