ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)

gnomAD frequency: 0.00003  dbSNP: rs201419783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702342 SCV000831194 uncertain significance Nephronophthisis 16 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 733 of the ANKS6 protein (p.Thr733Pro). This variant is present in population databases (rs201419783, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ANKS6-related conditions. ClinVar contains an entry for this variant (Variation ID: 579133). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001759399 SCV001986190 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002533652 SCV003605427 uncertain significance Inborn genetic diseases 2021-09-03 criteria provided, single submitter clinical testing The c.2197A>C (p.T733P) alteration is located in exon 12 (coding exon 12) of the ANKS6 gene. This alteration results from a A to C substitution at nucleotide position 2197, causing the threonine (T) at amino acid position 733 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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