ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.2151G>A (p.Met717Ile)

gnomAD frequency: 0.00001  dbSNP: rs188446159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822362 SCV002066645 uncertain significance not specified 2020-10-29 criteria provided, single submitter clinical testing DNA sequence analysis of the ANKRD26 gene demonstrated a sequence change, c.2151G>A, in exon 20 that results in an amino acid change, p.Met717Ile. This sequence change does not appear to have been previously described in patients with ANKRD26-related disorders. This sequence change has been described in the gnomAD database with a low overall population frequency of 0.012% and a frequency of 0.087% in the Latino sub group (dbSNP rs188446159). The p.Met717Ile change affects a poorly conserved amino acid residue of the ANKRD26 protein. The p.Met717Ile substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Met717Ile change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002545163 SCV003249050 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004946749 SCV005447959 uncertain significance Inborn genetic diseases 2024-11-22 criteria provided, single submitter clinical testing The p.M717I variant (also known as c.2151G>A), located in coding exon 20 of the ANKRD26 gene, results from a G to A substitution at nucleotide position 2151. The methionine at codon 717 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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