ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.317C>T (p.Ser106Leu)

gnomAD frequency: 0.00001  dbSNP: rs730880462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469881 SCV000550345 uncertain significance Costello syndrome 2023-03-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 409948). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is present in population databases (rs730880462, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 106 of the HRAS protein (p.Ser106Leu). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt HRAS function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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