ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) (rs200478425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000023859 SCV000807607 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a pathogenic variant in a 9-year-old male with intellectual disability, short stature, atrial septal defect, undescended testicle, severe congenital neutropenia, diffuse ganglioneuromatosis. Heterozygotes are expected to be asymptomatic carriers.
Mendelics RCV000986189 SCV001135100 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000023859 SCV001218449 pathogenic Severe congenital neutropenia 4, autosomal recessive 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 260 of the G6PC3 protein (p.Gly260Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200478425, ExAC 0.01%). This variant has been observed in individual(s) with syndromic severe congenital neutropenia (PMID: 19118303, 23180359, 20616219, 23441086). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30874). This variant has been reported to affect G6PC3 protein function (PMID: 25492228). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023859 SCV000045150 pathogenic Severe congenital neutropenia 4, autosomal recessive 2010-10-14 no assertion criteria provided literature only
GeneReviews RCV000023859 SCV000222646 pathogenic Severe congenital neutropenia 4, autosomal recessive 2015-01-18 no assertion criteria provided literature only

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