ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)

gnomAD frequency: 0.00002  dbSNP: rs747911603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069182 SCV001234334 uncertain significance KBG syndrome 2019-12-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ANKRD11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces alanine with serine at codon 2371 of the ANKRD11 protein (p.Ala2371Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine.
Ambry Genetics RCV002365776 SCV002662649 uncertain significance Inborn genetic diseases 2020-03-11 criteria provided, single submitter clinical testing The p.A2371S variant (also known as c.7111G>T), located in coding exon 7 of the ANKRD11 gene, results from a G to T substitution at nucleotide position 7111. The alanine at codon 2371 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001069182 SCV003818618 uncertain significance KBG syndrome 2020-06-02 criteria provided, single submitter clinical testing

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