ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)

gnomAD frequency: 0.00005  dbSNP: rs773877975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348666 SCV001542975 likely benign Noonan syndrome 9 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036561 SCV003668823 uncertain significance Cardiovascular phenotype 2022-12-15 criteria provided, single submitter clinical testing The c.3644C>G (p.T1215S) alteration is located in exon 23 (coding exon 23) of the SOS2 gene. This alteration results from a C to G substitution at nucleotide position 3644, causing the threonine (T) at amino acid position 1215 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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