ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.8015A>T (p.Asp2672Val) (rs138655269)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481182 SCV000569120 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The D2672V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D2672V variant is observed in 315/126102 (0.25%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The D2672V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. GeneDx interprets D2672V as a variant of uncertain significance.
Undiagnosed Diseases Network,NIH RCV000626046 SCV000746665 uncertain significance Van Maldergem syndrome 2 2016-11-16 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000626046 SCV001571471 uncertain significance Van Maldergem syndrome 2 2021-03-01 criteria provided, single submitter research The FAT4 c.8015A>T (p.Asp2672Val) missense variant is located in exon 10, and results in a single amino acid substitution from an aspartic acid to a valine. This variant was detected in the compound heterozygous state in an individual with Van Maldergem syndrome 2; this individual was also reported to have diploid/triploid mosaicism (ClinVar entry from Undiagnosed Diseases Network). The variant was also described in the homozygous state in a 3 year-old male with suspected Van Maldergem syndrome; he also had compound heterozygous variants in CYP21A2 and was diagnosed with congenital adrenal hyperplasia (PMID: 31384091). FAT4 c.8015A>T (p.Asp2672Val) is present in human population databases (allele frequency 383 alleles/281150 total alleles: 0.001). Due to the limited information regarding this variant, it is classified as a VUS.
Invitae RCV000481182 SCV001657028 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing

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