ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)

gnomAD frequency: 0.00009  dbSNP: rs565316605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973902 SCV001121691 likely benign Schimke immuno-osseous dysplasia 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV005278703 SCV005947378 uncertain significance Inborn genetic diseases 2024-12-13 criteria provided, single submitter clinical testing The c.117C>T (p.G39G) alteration is located in exon 3 (coding exon 1) of the SMARCAL1 gene. This alteration consists of a C to T substitution at nucleotide position 117. This nucleotide substitution does not change the amino acid at codon 39. However, this change occurs in the last nucleotide of Exon 3 (c.-58_811) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000973902 SCV001453738 likely benign Schimke immuno-osseous dysplasia 2020-09-16 no assertion criteria provided clinical testing

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