ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn)

dbSNP: rs144087649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002997753 SCV003709956 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.3712G>A (p.D1238N) alteration is located in exon 4 (coding exon 3) of the SETBP1 gene. This alteration results from a G to A substitution at nucleotide position 3712, causing the aspartic acid (D) at amino acid position 1238 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003548937 SCV004266460 benign not provided 2024-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736296 SCV005352830 uncertain significance SETBP1-related disorder 2024-07-28 no assertion criteria provided clinical testing The SETBP1 c.3712G>A variant is predicted to result in the amino acid substitution p.Asp1238Asn. This variant was reported in an individual with neurodevelopmental disorder (Supplementary Data 5, Wang et al 2020. PubMed ID: 33004838). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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