ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.3811A>G (p.Ile1271Val)

gnomAD frequency: 0.00041  dbSNP: rs199940124
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908636 SCV001053411 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243370 SCV003937685 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.3811A>G (p.I1271V) alteration is located in exon 28 (coding exon 28) of the SCAPER gene. This alteration results from a A to G substitution at nucleotide position 3811, causing the isoleucine (I) at amino acid position 1271 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000908636 SCV005213259 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004754625 SCV005358308 uncertain significance SCAPER-related disorder 2024-07-30 no assertion criteria provided clinical testing The SCAPER c.3829A>G variant is predicted to result in the amino acid substitution p.Ile1277Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.058% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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