ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00004  dbSNP: rs562934427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669716 SCV000794495 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV000669716 SCV002293142 uncertain significance ALG6-congenital disorder of glycosylation 1C 2022-02-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ALG6 mRNA. The next in-frame methionine is located at codon 7. This variant is present in population databases (rs562934427, gnomAD 0.004%). Disruption of the initiator codon has been observed in individual(s) with clinical features of congenital disorders of glycosylation (PMID: 28139241). ClinVar contains an entry for this variant (Variation ID: 554144). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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