ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.988G>T (p.Val330Phe)

dbSNP: rs1057518724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000415014 SCV000793998 uncertain significance ALG6-congenital disorder of glycosylation 1C 2017-09-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415014 SCV000328846 uncertain significance ALG6-congenital disorder of glycosylation 1C 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in ALG6 (NM_013339.3:c.257+5G>A; NM_013339.3:c.988G>T; in trans) and SHOX (NM_000451.3:c.517C>T) in an individual with mild hypotonia, poor feeding, congenital heart disease (VSD, PFO, PDA), seizure disorder, dysmorphic facies, small chest wall, bowed lower legs, apparently short upper extremities, shallow sacral dimple, small for gestational age and a history of prematurity and intrauterine growth restriction.

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