ClinVar Miner

Submissions for variant NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser)

gnomAD frequency: 0.00019  dbSNP: rs138792343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004041013 SCV003677564 uncertain significance not specified 2024-09-24 criteria provided, single submitter clinical testing The c.457G>T (p.A153S) alteration is located in exon 6 (coding exon 5) of the SCAF1 gene. This alteration results from a G to T substitution at nucleotide position 457, causing the alanine (A) at amino acid position 153 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001825294 SCV002075131 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-09-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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