ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr)

gnomAD frequency: 0.00003  dbSNP: rs1007969036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420596 SCV001622913 uncertain significance Nicolaides-Baraitser syndrome 2020-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038182 SCV004953851 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.880G>A (p.A294T) alteration is located in exon 5 (coding exon 4) of the SMARCA2 gene. This alteration results from a G to A substitution at nucleotide position 880, causing the alanine (A) at amino acid position 294 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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