ClinVar Miner

Submissions for variant NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289036 SCV002581399 uncertain significance Coffin-Siris syndrome 11 2022-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101664 SCV003680282 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.142C>G (p.L48V) alteration is located in exon 1 (coding exon 1) of the SMARCD1 gene. This alteration results from a C to G substitution at nucleotide position 142, causing the leucine (L) at amino acid position 48 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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