ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1321G>A (p.Val441Ile)

gnomAD frequency: 0.00036  dbSNP: rs202150959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822582 SCV000963391 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-12-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811506 SCV001160546 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing The EVC c.1321G>A; p.Val441Ile variant (rs202150959), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.042% (119/282858 alleles) in the Genome Aggregation Database. The valine at codon 441 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val441Ile variant is uncertain at this time.
Ambry Genetics RCV004029108 SCV004866822 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.1321G>A (p.V441I) alteration is located in exon 10 (coding exon 10) of the EVC gene. This alteration results from a G to A substitution at nucleotide position 1321, causing the valine (V) at amino acid position 441 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526036 SCV005039966 uncertain significance not specified 2024-03-08 criteria provided, single submitter clinical testing Variant summary: EVC c.1321G>A (p.Val441Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00043 in 251460 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1321G>A in individuals affected with Ellis-van Creveld syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 664480). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001271202 SCV001452191 uncertain significance Ellis-van Creveld syndrome 2020-01-06 no assertion criteria provided clinical testing

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