ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly)

gnomAD frequency: 0.00004  dbSNP: rs755282356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630689 SCV000751654 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 510 of the ELP1 protein (p.Glu510Gly). This variant is present in population databases (rs755282356, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 526192). 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. 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.
Ambry Genetics RCV004025386 SCV002755408 uncertain significance not specified 2022-09-29 criteria provided, single submitter clinical testing The c.1529A>G (p.E510G) alteration is located in exon 14 (coding exon 13) of the IKBKAP gene. This alteration results from a A to G substitution at nucleotide position 1529, causing the glutamic acid (E) at amino acid position 510 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000630689 SCV005195520 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000630689 SCV005197817 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274627 SCV001458954 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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