ClinVar Miner

Submissions for variant NM_001367871.1(FBRSL1):c.2810C>T (p.Ala937Val)

gnomAD frequency: 0.00004  dbSNP: rs1299339182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227594 SCV002506631 uncertain significance FBRSL1-associated neurodevelopmental syndrome 2021-04-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694175 SCV005192058 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004917784 SCV005583107 uncertain significance not specified 2024-08-27 criteria provided, single submitter clinical testing The c.2939C>T (p.A980V) alteration is located in exon 17 (coding exon 17) of the FBRSL1 gene. This alteration results from a C to T substitution at nucleotide position 2939, causing the alanine (A) at amino acid position 980 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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