ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1309A>C (p.Asn437His)

gnomAD frequency: 0.00041  dbSNP: rs148609833
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002534609 SCV000936308 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 437 of the IKBKAP protein (p.Asn437His). This variant is present in population databases (rs148609833, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 643142). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000796780 SCV001786886 uncertain significance Familial dysautonomia 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027574 SCV002755470 uncertain significance not specified 2023-07-05 criteria provided, single submitter clinical testing The c.1309A>C (p.N437H) alteration is located in exon 12 (coding exon 11) of the IKBKAP gene. This alteration results from a A to C substitution at nucleotide position 1309, causing the asparagine (N) at amino acid position 437 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495051 SCV002790957 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002534609 SCV005195521 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000796780 SCV001462242 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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