ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met)

gnomAD frequency: 0.00003  dbSNP: rs146164750
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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 RCV002227698 SCV002506779 uncertain significance Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 2021-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003093900 SCV003529789 uncertain significance Inborn genetic diseases 2021-06-02 criteria provided, single submitter clinical testing The c.632C>T (p.T211M) alteration is located in exon 4 (coding exon 3) of the SMARCA2 gene. This alteration results from a C to T substitution at nucleotide position 632, causing the threonine (T) at amino acid position 211 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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