ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)

gnomAD frequency: 0.00018  dbSNP: rs144782810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001423298 SCV001625873 likely benign Townes syndrome 2018-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000983808 SCV001831503 benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550579 SCV003711354 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.2752G>A (p.A918T) alteration is located in exon 2 (coding exon 2) of the SALL1 gene. This alteration results from a G to A substitution at nucleotide position 2752, causing the alanine (A) at amino acid position 918 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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