ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)

dbSNP: rs150173231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554752 SCV000634726 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 978 of the EVC protein (p.Asp978Tyr). This variant is present in population databases (rs150173231, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 461814). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002527753 SCV003731970 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2932G>T (p.D978Y) alteration is located in exon 21 (coding exon 21) of the EVC gene. This alteration results from a G to T substitution at nucleotide position 2932, causing the aspartic acid (D) at amino acid position 978 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835849 SCV002083070 uncertain significance Ellis-van Creveld syndrome 2019-10-28 no assertion criteria provided clinical testing

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