ClinVar Miner

Submissions for variant NM_000151.4(G6PC):c.370G>A (p.Ala124Thr) (rs104894568)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000012786 SCV001163782 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA criteria provided, single submitter clinical testing
Invitae RCV000012786 SCV001204378 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 124 of the G6PC protein (p.Ala124Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with glycogen storage disease type Ia (PMID: 8733042,11949931). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12006). This variant has been reported to affect G6PC protein function (PMID: 11739393, 10738525). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012786 SCV000033026 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1996-05-01 no assertion criteria provided literature only

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