ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)

gnomAD frequency: 0.00042  dbSNP: rs138819354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489879 SCV000576865 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing The I576T variant in the SMARCAL1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I576T variant is observed in 14/10400 (0.13%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I576T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret I576T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000814798 SCV000955225 likely benign Schimke immuno-osseous dysplasia 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526018 SCV003531477 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.1727T>C (p.I576T) alteration is located in exon 11 (coding exon 9) of the SMARCAL1 gene. This alteration results from a T to C substitution at nucleotide position 1727, causing the isoleucine (I) at amino acid position 576 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000814798 SCV002076312 uncertain significance Schimke immuno-osseous dysplasia 2019-11-11 no assertion criteria provided clinical testing

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