ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln)

gnomAD frequency: 0.00006  dbSNP: rs757261515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650285 SCV000772125 uncertain significance Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2020-05-07 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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, 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 a EDARADD-related disease. This variant is present in population databases (rs757261515, ExAC 0.01%). This sequence change replaces arginine with glutamine at codon 170 of the EDARADD protein (p.Arg170Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Revvity Omics, Revvity RCV003144446 SCV003831384 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278973 SCV003953749 uncertain significance Inborn genetic diseases 2023-04-20 criteria provided, single submitter clinical testing The c.509G>A (p.R170Q) alteration is located in exon 6 (coding exon 6) of the EDARADD gene. This alteration results from a G to A substitution at nucleotide position 509, causing the arginine (R) at amino acid position 170 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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