ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile)

gnomAD frequency: 0.00011  dbSNP: rs199701845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996269 SCV001150918 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV002067616 SCV002439792 likely benign Townes syndrome 2022-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549932 SCV003640371 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.3964G>A (p.V1322I) alteration is located in exon 3 (coding exon 3) of the SALL1 gene. This alteration results from a G to A substitution at nucleotide position 3964, causing the valine (V) at amino acid position 1322 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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