ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.698+1G>T

dbSNP: rs1057517175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409628 SCV000486868 likely pathogenic Aspartylglucosaminuria 2016-08-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000409628 SCV000916055 uncertain significance Aspartylglucosaminuria 2018-10-12 criteria provided, single submitter clinical testing The AGA c.698+1G>T variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and variant. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, the c.698+1G>T variant is classified as a variant of unknown significance but suspicious for pathogenicity for aspartylglycosaminuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Baylor Genetics RCV000409628 SCV004214309 likely pathogenic Aspartylglucosaminuria 2022-07-19 criteria provided, single submitter clinical testing

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