ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.820+4A>C

gnomAD frequency: 0.00001  dbSNP: rs398123186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078237 SCV000110075 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000818066 SCV000958661 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the GALT gene. It does not directly change the encoded amino acid sequence of the GALT protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs398123186, ExAC 0.01%). This variant has been observed in individual(s) with clinical features of GALT-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 92523). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV001271246 SCV001452290 uncertain significance Galactosemia 2020-09-16 no assertion criteria provided clinical testing

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