ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3713T>C (p.Leu1238Ser)

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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 RCV003086039 SCV003473220 benign RASopathy 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071908 SCV004957695 uncertain significance Cardiovascular phenotype 2024-01-30 criteria provided, single submitter clinical testing The c.3713T>C (p.L1238S) alteration is located in exon 23 (coding exon 23) of the SOS1 gene. This alteration results from a T to C substitution at nucleotide position 3713, causing the leucine (L) at amino acid position 1238 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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